Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Gulec EY"'
Autor:
Saffari A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany., Lau T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Tajsharghi H; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde, Sweden., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran., Efthymiou S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Sultan T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Sedighzadeh S; Department of Biological Sciences, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; KaryoGen, Isfahan, Iran., Siu VM; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., AlShamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE., Ibrahim S; Department of pediatrics and child Health, Aga Khan University, Karachi, Pakistan., Al-Sannaa NA; Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia., Al-Hertani W; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA., Sandra W; APHP UF de Génétique Clinique, Centre de Référence des Anomalies du Développement et Syndromes Malformatifs, APHP, Hôpital Armand Trousseau, ERN ITHACA, Sorbonne Université, Paris, France., Tarnopolsky M; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada., Alavi S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Li C; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada., Day-Salvatore DL; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA., Martínez-González MJ; Pediatric Neurology Unit, Cruces University Hospital, Barakaldo, Vizcaya, Spain., Levandoski KM; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA., Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Madan-Khetarpal S; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Idleburg MJ; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Menezes MJ; Department of Anaesthesia, the Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia., Siddharth A; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Smitka M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany., Collins F; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia., Lek M; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA., Shahrooei M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Ghavideldarestani M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Division of Pediatric Neuroscience, Boys Town National Research Hospital, Boys Town, NE, USA., Rendu J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France., Faure J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France., Baker J; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA., Bhambhani V; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA., Calderwood L; Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA., Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Mirzadeh HS; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Safi M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ahangari N; Innovative medical research centre, Mashhad branch, Islamic Azad University, Mashhad, Iran., Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Abedini S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Salpietro V; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Gulec EY; Istanbul Medeniyet University Medical School, Department of Medical Genetics, Istanbul, Turkey., Eshaghian S; Isfahan Fertility and Infertility Center, Isfahan, Iran., Ghazavi M; Department of Pediatric Neurology, Imam Hossein Children's Hospital, Isfahan University of Medical Sciences, Isfahan, Iran., Pascher MT; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany., Vogel M; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Deutsches Krebsforschungszentrum, Heidelberg, Germany., Abicht A; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Medizinisch Genetisches Zentrum, Munich, German., Moutton S; Multidisciplinary Center for Prenatal Diagnosis, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France., Bruel AL; Équipe Génétique des Anomalies du Développement (GAD), INSERM UMR1231, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, Dijon University Hospital, Dijon, France., Rieubland C; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland., Gallati S; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland., Strom TM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada., Mohammadi MH; Department of pediatrics, Zabol University of medical sciences, Zabol, Iran., Alvi JR; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Berger SI; Children's National Research Institute, Washington DC, USA., Andrew EH; Children's National Research Institute, Washington DC, USA., Rahimian E; Haghighat Medical Imaging center-Tehran, Tehran, Iran., Morrow MM; GeneDx, Gaithersburg, MD, USA., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Henderson LB; GeneDx, Gaithersburg, MD, USA., Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max-Planck-Institute for Biology of Ageing and CECAD, Cologne, Germany.; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK., Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK., Gomez-Ospina N; Department of Pediatrics, Stanford University, Stanford, CA, USA., McRae A; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Peter M; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Veltra D; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Ashrafzadeh F; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Melki J; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, Paris, France., Benezit A; Neurologie et réanimation pédiatrique, Hôpital Raymond Poincaré, APHP, Garches, France., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Weis D; Department of Medical Genetics, Kepler University Hospital, Johann Kepler University, Linz, Austria., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Senderek J; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany., Christodoulou J; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Melbourne and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia., Chung WK; Department of Pediatrics and Medicine, Columbia University New York, NY, USA., Goodchild R; KU Leuven Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium.; VIB-KU Leuven Center for Brain and Disease Research, Laboratory for Dystonia Research, Leuven, Belgium., Offiah AC; Department of Oncology & Metabolism, University of Sheffield, UK., Moreno-De-Luca A; Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology, Diagnostic Medicine Institute, Geisinger, Danville, PA, USA., Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Boston, MA, USA., Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Aug 01; Vol. 146 (8), pp. 3273-3288.
Autor:
Adamo CS; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Beyens A; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium; Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium., Schiavinato A; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Istituto Di Patalogia Clinica, Azienda Sanitaria Universitaria Integrata di Udine (ASUID), 33100 Udine, Italy., Keene DR; Research Division, Shriners Hospital for Children, Portland, OR 97239, USA., Tufa SF; Research Division, Shriners Hospital for Children, Portland, OR 97239, USA., Mörgelin M; Division of Infection Medicine, Department of Clinical Sciences, Lund University, 22242 Lund, Sweden; Colzyx AB, 22363 Lund, Sweden., Brinckmann J; Department of Dermatology and Institute of Virology and Cell Biology, University of Lübeck, 23562 Lübeck, Germany., Sasaki T; Department of Biochemistry II, Faculty of Medicine, Oita University, Oita 870-1192, Japan., Niehoff A; Cologne Center for Musculoskeletal Biomechanics (CCMB), Medical Faculty and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Institute of Biomechanics and Orthopaedics, German Sport University Cologne, 50933 Cologne, Germany., Dreiner M; Institute of Biomechanics and Orthopaedics, German Sport University Cologne, 50933 Cologne, Germany., Pottie L; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium., Muiño-Mosquera L; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Pediatric Cardiology, Ghent University Hospital, 9000 Ghent, Belgium., Gulec EY; Department of Medical Genetics, Istanbul Medeniyet University Medical School, 34720 Istanbul, Turkey; Department of Medical Genetics, Istanbul Goztepe Prof. Dr. Suleyman Yalcin City Hospital, 34722 Istanbul, Turkey., Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, 34480 Istanbul, Turkey., Braghetta P; Department of Molecular Medicine, University of Padova, 35131 Padova, Italy., Bonaldo P; Department of Molecular Medicine, University of Padova, 35131 Padova, Italy., Wagener R; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Paulsson M; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Center for Musculoskeletal Biomechanics (CCMB), Medical Faculty and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany., Bornaun H; Department of Pediatric Cardiology, Kanuni Sultan Suleyman Research and Training Hospital, 34303 Istanbul, Turkey., De Rycke R; Department of Biomedical Molecular Biology Ghent University, 9000 Ghent, Belgium; VIB Center for Inflammation Research and BioImaging Core, VIB, 9052 Ghent, Belgium., De Bruyne M; Department of Biomedical Molecular Biology Ghent University, 9000 Ghent, Belgium; VIB Center for Inflammation Research and BioImaging Core, VIB, 9052 Ghent, Belgium., Baeke F; Department of Biomedical Molecular Biology Ghent University, 9000 Ghent, Belgium; VIB Center for Inflammation Research and BioImaging Core, VIB, 9052 Ghent, Belgium., Devine WP; Department of Pathology, University of California San Francisco, San Francisco, CA 94115, USA., Gangaram B; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94158, USA., Tam A; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94158, USA., Balasubramanian M; Highly Specialised Osteogenesis Imperfecta Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield S10 2TH, UK; Department of Oncology and Metabolism, The University of Sheffield, Sheffield S10 2TN, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., Moore S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., Symoens S; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium., Shen J; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, University of California Sacramento, Sacramento, CA 95817, USA., Cole S; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, University of California Sacramento, Sacramento, CA 95817, USA., Schwarze U; Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, WA, USA., Holmes KW; Department of Pediatrics, Oregon Health & Science University, Portland, OR 97239, USA., Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA., Wiszniewski W; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682041, India., Davis EC; Department of Anatomy and Cell Biology, McGill University, Montreal, QC H3A 0C7, Canada., Sakai LY; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA., Sengle G; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Center for Musculoskeletal Biomechanics (CCMB), Medical Faculty and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany. Electronic address: gsengle@uni-koeln.de., Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium. Electronic address: bert.callewaert@ugent.be.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 Dec 01; Vol. 109 (12), pp. 2230-2252. Date of Electronic Publication: 2022 Nov 08.
Autor:
Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gulec EY; Department of Medical Genetics, School of Medicine, Istanbul Medeniyet University, Istanbul, Turkey., Eker HK; Department of Medical Genetics, Konya City Hospital, Konya, Turkey., Costa SR; Human Genome and Stem Cell Research Center, Institute of Bioscience, Universidade de São Paulo, São Paulo, Brazil., Sahin Y; Medical Genetics, Genoks Genetics Center, Ankara, Turkey., Ocak Z; Department of Medical Genetics, Faculty of Medicine, Istinye University, Istanbul, Turkey., Isikay S; Department of Pediatric Neurology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey., Ozalp O; Department of Medical Genetics, Adana City Training and Research Hospital, Adana, Turkey., Bozdogan S; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey., Aslan H; Department of Medical Genetics, Adana City Training and Research Hospital, Adana, Turkey., Elcioglu N; Department of Pediatric Genetics, School of Medicine, Marmara University, Istanbul, Turkey.; Eastern Mediterranean University Medical School, Magosa, 10 Mersin, Turkey., Bertola DR; Human Genome and Stem Cell Research Center, Institute of Bioscience, Universidade de São Paulo, São Paulo, Brazil.; Genetics Unit, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
Publikováno v:
HGG advances [HGG Adv] 2022 Aug 04; Vol. 3 (4), pp. 100132. Date of Electronic Publication: 2022 Aug 04 (Print Publication: 2022).
Autor:
Komurcu SZM; Department of COVID-19 Diagnostic Center, Ministry of Health University of Health Science, Kanuni Sultan Süleyman Research and Training Hospital, Istanbul, Kucukcekmece, Turkey., Artik Y; TUSEB, Turkey Institutes of Health COVID-19 Diagnostic Center, Ministry of Health University of Health Science, Kanuni Sultan Süleyman Research and Training Hospital, Istanbul, Kucukcekmece, Turkey., Cesur NP; TUSEB, Turkey Institutes of Health COVID-19 Diagnostic Center, Ministry of Health University of Health Science, Kanuni Sultan Süleyman Research and Training Hospital, Istanbul, Kucukcekmece, Turkey., Tanriverdi A; Department of COVID-19 Diagnostic Center, Ministry of Health University of Health Science, Kanuni Sultan Süleyman Research and Training Hospital, Istanbul, Kucukcekmece, Turkey., Erdogan DC; Department of COVID-19 Diagnostic Center, Ministry of Health University of Health Science, Kanuni Sultan Süleyman Research and Training Hospital, Istanbul, Kucukcekmece, Turkey., Celik S; Department of COVID-19 Diagnostic Center, Ministry of Health University of Health Science, Kanuni Sultan Süleyman Research and Training Hospital, Istanbul, Kucukcekmece, Turkey., Gulec EY; Department of COVID-19 Diagnostic Center, Ministry of Health University of Health Science, Kanuni Sultan Süleyman Research and Training Hospital, Istanbul, Kucukcekmece, Turkey.
Publikováno v:
Journal of medical virology [J Med Virol] 2022 Mar; Vol. 94 (3), pp. 1009-1019. Date of Electronic Publication: 2021 Nov 01.
Autor:
Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Dec 02; Vol. 108 (12), pp. 2386-2388.
Autor:
Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Fasano G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Gredy S; Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany., Brinkmann J; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany., Bonnard AA; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, Paris, France., Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey., Gulec EY; Department of Medical Genetics, Health Sciences University, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, 34303 Istanbul, Turkey., Essaddam L; Department of Pediatrics-PUC, Béchir Hamza Children's Hospital, Faculty of Medicine, University of Tunis El Manar, Jebbari 1007, Tunis, Tunisia., Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey., Guarnetti Prandi I; Dipartimento per la Innovazione nei Sistemi Biologici, Agroalimentari e Forestali, Università Della Tuscia, 01100 Viterbo, Italy., Venditti M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Petrini S; Confocal Microscopy Core Facility, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy., Consoli F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Vignal C; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France., Hepbasli D; Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany., Ullrich M; Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany., de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands., Vissers LELM; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands., Gritli S; Department of Immunology, Pasteur Institute of Tunis, 1002 Tunis-Belvédère, Tunisia., Rossi C; Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Ben Becher S; Department of Pediatrics-PUC, Béchir Hamza Children's Hospital, Faculty of Medicine, University of Tunis El Manar, Jebbari 1007, Tunis, Tunisia., Gelb BD; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Lauri A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Chillemi G; Dipartimento per la Innovazione nei Sistemi Biologici, Agroalimentari e Forestali, Università Della Tuscia, 01100 Viterbo, Italy; Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari, Centro Nazionale Delle Ricerche, 70126 Bari, Italy., Schuh K; Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany., Cavé H; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, Paris, France., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Nov 04; Vol. 108 (11), pp. 2112-2129. Date of Electronic Publication: 2021 Oct 08.
Autor:
Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Isikay S; Department of Pediatric Neurology, Faculty of Medicine, University of Gaziantep, Gaziantep 27310, Turkey., Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey., Gulec EY; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, 34303 Istanbul, Turkey., Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Ayaz A; Department of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey; Departments of Medical Genetics, School of Medicine, Istanbul Medipol University, Istanbul 34810, Turkey., Tos T; University of Health Sciences Zubeyde Hanim Research and Training Hospital of Women's Health and Diseases, Department of Medical Genetics, Ankara 06080, Turkey., Yesil G; Istanbul Faculty of Medicine, Department of Medical Genetics, Istanbul University, Istanbul 34093, Turkey., Aydin H; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Private Reyap Istanbul Hospital, Istanbul 34515, Turkey., Geckinli B; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul 34722, Turkey., Elcioglu N; Department of Pediatric Genetics, School of Medicine, Marmara University, Istanbul 34722, Turkey; Eastern Mediterranean University Medical School, Magosa, Mersin 10, Turkey., Candan S; Medical Genetics Section, Balikesir Ataturk Public Hospital, Balikesir 10100, Turkey., Sezer O; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun 55100, Turkey., Erdem HB; Department of Medical Genetics, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara 06110, Turkey., Gul D; Department of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey., Demiral E; Department of Medical Genetics, School of Medicine, University of Inonu, Malatya 44280, Turkey., Elmas M; Department of Medical Genetics, Afyon Kocatepe University, School of Medicine, Afyon 03218, Turkey., Yesilbas O; Division of Critical Care Medicine, Department of Pediatrics, School of Medicine, Bezmialem Foundation University, Istanbul 34093, Turkey; Department of Pediatrics, Division of Pediatric Critical Care Medicine, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Kilic B; Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Inonu University, Malatya 34218, Turkey., Gungor S; Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Inonu University, Malatya 34218, Turkey., Ceylan AC; Department of Medical Genetics, University of Health Sciences, Ankara Training and Research Hospital, Ankara 06110, Turkey., Bozdogan S; Department of Medical Genetics, Cukurova University Faculty of Medicine, Adana 01330, Turkey., Ozalp O; Department of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey., Cicek S; Department of Medical Genetics, Konya Training and Research Hospital, Konya 42250, Turkey., Aslan H; Department of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey., Yalcintepe S; Department of Medical Genetics, School of Medicine, Trakya University, Edirne 22130, Turkey., Topcu V; Department of Medical Genetics, Ankara City Hospital, Ankara 06800, Turkey., Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA., Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Hu J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: pehlivan@bcm.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1981-2005. Date of Electronic Publication: 2021 Sep 28.
Autor:
Pottie L; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium., Adamo CS; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany., Beyens A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium; Department of Dermatology, Ghent University Hospital, Ghent 9000, Belgium., Lütke S; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany., Tapaneeyaphan P; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium., De Clercq A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium., Salmon PL; Bruker microCT, Kontich 2550, Belgium., De Rycke R; Department of Biomedical Molecular Biology, Ghent University, Ghent 9052, Belgium; VIB Center for Inflammation Research, Ghent 9052, Belgium; Ghent University Expertise Centre for Transmission Electron Microscopy and VIB Bioimaging Core, Ghent 9052, Belgium., Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey., Gulec EY; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Health Sciences University, Istanbul 34303, Turkey., Khan N; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Urquhart JE; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Newman WG; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK., Efthymiou S; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK., Anwar N; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore 54000, Pakistan., Maqbool S; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore 54000, Pakistan., Rahman F; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore 54000, Pakistan., Altweijri I; Department of Neurosurgery, King Khalid University Hospital, Riyadh 11211, Saudi Arabia., Alsaleh M; Heart Centre, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Abdullah SM; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Al-Owain M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11211, Saudi Arabia., Hashem M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11211, Saudi Arabia., Sips P; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium., Sengle G; Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany; Center for Molecular Medicine Cologne, University of Cologne, Robert-Koch-Street 21, Cologne 50931, Germany; Cologne Center for Musculoskeletal Biomechanics, Cologne 50931, Germany., Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium. Electronic address: bert.callewaert@ugent.be.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1095-1114. Date of Electronic Publication: 2021 May 14.
Autor:
Verlee M; Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium., Beyens A; Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium., Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, 34480 Istanbul, Turkey., Gulec EY; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Health Sciences University, 34303 Istanbul, Turkey., Pottie L; Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium., De Feyter S; Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium., Vanhooydonck M; Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium., Tapaneeyaphan P; Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium., Symoens S; Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium., Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.
Publikováno v:
Genes [Genes (Basel)] 2021 Mar 31; Vol. 12 (4). Date of Electronic Publication: 2021 Mar 31.
Autor:
Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Turan S; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey., Aycan Z; Department of Pediatric Endocrinology, Sami Ulus Children's Hospital, Ankara, Turkey., Tos T; Department of Medical Genetics, Sami Ulus Children's Hospital, Ankara, Turkey., Abali ZY; Department of Pediatric Endocrinology, İstanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Hacihamdioglu B; Department of Pediatric Endocrinology, Istinye University, Istanbul, Turkey., Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Bas S; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey., Atay Z; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey., Guran T; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey., Abali S; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey., Bas F; Department of Pediatric Endocrinology, İstanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Darendeliler F; Department of Pediatric Endocrinology, İstanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Colombo R; Center for the Study of Rare Inherited Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.; Faculty of Medicine, Catholic University, IRCCS Policlinico Gemelli University Hospital, Rome, Italy., Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., White JJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Yesil G; Department of Medical Genetics, Bezmialem University, Istanbul, Turkey., Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey., Gulec EY; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey., Karaca E; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Poyrazoglu S; Department of Pediatric Endocrinology, İstanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Bereket A; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2019 Aug 01; Vol. 104 (8), pp. 3049-3067.