Zobrazeno 1 - 10
of 423
pro vyhledávání: '"Pinto-Basto J"'
Autor:
Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK., Rad A; Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar 009851, Iran.; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany., Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Bertoli-Avella A; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Kallemeijn WW; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK., Godwin A; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Lau T; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Efthymiou S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK., Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad 1696700, Iran., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg 69120, Germany., Normand EA; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA., Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria., Schatz UA; Institute of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria.; Institute of Human Genetics, Technical University of Munich, Munich, 81675, Germany., Baggelaar MP; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Biomolecular Mass Spectrometry & Proteomics Group, Utrecht University, 3584 CH Utrecht, The Netherlands., Ilyas M; Department of BioEngineering, University of Engineering and Applied Sciences, 19130 Swat, Pakistan.; Centre for Omic Sciences, Islamia College University, 25000 Peshawar, Pakistan., Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan., Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore 54600, Pakistan., Ganieva M; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan., Fowler B; Imaging Core, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Aanicai R; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Tayfun GA; Department of Pediatric Genetics, Marmara University Medical School, 34722 Istanbul, Turkey., Al Saman A; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, 49046 Riyadh, Saudi Arabia., Alswaid A; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdullah Specialized Children's Hospital, Riyadh 11461, Saudi Arabia., Amiri N; International Collaboration on Repair Discoveries (ICORD), University of British Columbia, Vancouver, BC V5Z 1M9, Canada., Asilova N; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan., Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand., Yeetong P; Division of Human Genetics, Department of Botany, Faculty of Science, Chulalongkorn University, Bangkok 10330, Thailand., Azam M; Pediatrics and Child Neurology, Wah Medical College, 47000 Wah Cantt, Pakistan., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 94149-74877, Iran., Monajemi GB; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran., Mohammadi P; Children's Medical Center, Pediatrics Center of Excellence, Ataxia Clinic, Tehran University of Medical Sciences, Tehran 1416634793, Iran.; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran., Samie S; Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Tehran, Iran., Banu SH; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh., Pinto Basto J; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Bauer M; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA., Bauer P; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Beetz C; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Garshasbi M; Faculty of Medical Sciences, Department of Medical Genetics, Tarbiat Modares University, Tehran 1411944961, Iran., Issa AH; Department of Neurology, University of Basrah, 61004 Basrah, Iraq., Eyaid W; Department of Genetics and Precision Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh 11426, Saudi Arabia., Ahmed H; Department of Genetics and Precision Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh 11426, Saudi Arabia., Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, 13131-99137 Mashhad, Iran., Hassanpour K; Non-Communicable Diseases Research Center, Sabzevar University of Medical Sciences, 319 Sabzevar, Iran., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 68010, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Neurology, Neurogenetics and Rare Diseases, Boys Town National Research Hospital, Boys Town, NE 68131, USA., Ibrohimov S; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan., Abdul-Majeed BA; Molecular Pathology and Genetics, The Pioneer Molecular Pathology Lab, Baghdad 10044, Iraq., Imdad M; Centre for Human Genetics, Hazara University, 21300 Mansehra, Pakistan., Isrofilov M; Department of Neurology, Avicenna Tajik State Medical University, 734063 Dushanbe, Tajikistan., Kaiyal Q; Department of Pediatric Neurology, Clalit Health Care, 2510500 Haifa, Israel., Khan S; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Kirmse B; SOM-Peds-Genetics, University of Mississippi Medical Center, Jackson MS, 39216, USA., Koster J; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers location AMC, 1100 DD Amsterdam, The Netherlands., Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, 14096-160 São Paulo, Brazil., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Moldovan O; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, 1649-035 Lisboa, Portugal., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Najafi M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, 79106 Freiburg, Germany.; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 68010, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rocha ME; Department of Medical Genetics, CENTOGENE GmbH, 18055 Rostock, Germany., Salpietro V; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK., Schmidts M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, 79106 Freiburg, Germany.; Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany., Shalata A; Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel.; Bruce Rappaport Faculty of Medicine, the Technion institution of Technology, 3200003 Haifa, Israel., Mahroum M; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany., Talbeya JK; Pediatrics and Medical Genetics, the Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, 31048 Haifa, Israel.; Department of Radiology, The Bnai Zion Medical Center, Haifa 31048, Israel., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK., Vazquez D; Division of Clinical Genetics and Metabolism, Nicklas Children's Hospital, Miami, FL 33155, USA., Vetro A; Neuroscience Department, Meyer Children's Hospital IRCCS, 50139 Florence, Italy., Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers location AMC, 1100 DD Amsterdam, The Netherlands., Zaman M; Department of Paediatric Neurology and Development, Dr. M.R. Khan Shishu (Children) Hospital and Institute of Child Health, Dhaka 1216, Bangladesh., Schrader TA; Department of Biosciences, University of Exeter, Exeter EX4 4QD, UK., Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA., Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, 50139 Florence, Italy.; Neuroscience, Pharmacology and Child Health Department, University of Florence, 50139 Florence, Italy., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Neurology, Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Gleeson J; Department of Neurosciences, University of California, San Diego, CA 92093, USA.; Department of Neurosciences, Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA., Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK., Jamshidi Y; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London SW17 0RE, UK.; Human Genetics Centre of Excellence, Novo Nordisk Research Centre Oxford, Oxford, OX3 7FZ, UK., Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Vona B; Tübingen Hearing Research Centre, Department of Otolaryngology, Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, 37075 Göttingen, Germany., Schrader M; Department of Biosciences, University of Exeter, Exeter EX4 4QD, UK., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Guille M; European Xenopus Resource Centre-XenMD, School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DT, UK., Tate EW; Department of Chemistry, Imperial College London, Molecular Sciences Research Hub, London W12 0BZ, UK.; Chemical Biology and Therapeutic Discovery Lab, The Francis Crick Institute, London NW1 1AT, UK., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA., Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Apr 04; Vol. 147 (4), pp. 1436-1456.
Autor:
Guatibonza Moreno P; CENTOGENE GmbH, Rostock, Germany., Pardo LM; CENTOGENE GmbH, Rostock, Germany., Pereira C; CENTOGENE GmbH, Rostock, Germany., Schroeder S; CENTOGENE GmbH, Rostock, Germany., Vagiri D; CENTOGENE GmbH, Rostock, Germany., Almeida LS; CENTOGENE GmbH, Rostock, Germany., Juaristi C; CENTOGENE GmbH, Rostock, Germany., Hosny H; CENTOGENE GmbH, Rostock, Germany., Loh CCY; CENTOGENE GmbH, Rostock, Germany., Leubauer A; CENTOGENE GmbH, Rostock, Germany., Torres Morales G; CENTOGENE GmbH, Rostock, Germany., Oppermann S; CENTOGENE GmbH, Rostock, Germany., Iurașcu MI; CENTOGENE GmbH, Rostock, Germany., Fischer S; CENTOGENE GmbH, Rostock, Germany., Steinicke TM; CENTOGENE GmbH, Rostock, Germany., Viceconte N; CENTOGENE GmbH, Rostock, Germany., Cozma C; CENTOGENE GmbH, Rostock, Germany., Kandaswamy KK; CENTOGENE GmbH, Rostock, Germany., Pinto Basto J; CENTOGENE GmbH, Rostock, Germany., Böttcher T; CENTOGENE GmbH, Rostock, Germany., Bauer P; CENTOGENE GmbH, Rostock, Germany. Peter.Bauer@centogene.com.; Univesrity of Rostock, Rostock, Germany. Peter.Bauer@centogene.com., Bertoli-Avella A; CENTOGENE GmbH, Rostock, Germany.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Oct; Vol. 31 (10), pp. 1108-1116. Date of Electronic Publication: 2023 Jul 11.
Autor:
Thomas Q; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France. Electronic address: quentin.thomas@chu-dijon.fr., Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Gautier T; University Grenoble Alpes, Inserm, CNRS, Institute for Advanced Biosciences, 38000 Grenoble, France., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; Armed Forces College of Medicine, Cairo, Egypt., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Paccaud J; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Girodon F; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Biology Division, Department of Biological Hematology, Dijon Hospital, 21000 Dijon, France., Boespflug-Tanguy O; Université Paris Cité, UMR 1141 NeuroDiderot, Inserm, 75019 Paris, France; Service de Neuropédiatrie, reference center for leukodystrophies, APHP, Hopital Robert Debré, 75019 Paris, France., Besnard T; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Masson A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Denommé-Pichon AS; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France., Trochu E; Service de Génétique Médicale, CHU Nantes, Nantes, France., Vignard V; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France., El It F; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Alkhateeb MA; Women Wellness and Research Center Hamad Medical Corporation, Doha, Qatar., Jamra RA; Institute of Human Genetics, University Medical Center, Leipzig, Germany., Duplomb L; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Tisserant E; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Duffourd Y; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Bruel AL; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, London SW17 0RE, UK., Saggar A; Medical Genetics, St George's University Hospitals NHS FT, London SW17 0RE, UK; The Portland Hospital, 205-209 Great Portland St, London W1W 5AH, UK., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, CA 92093, USA., Sievert D; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Bae H; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Lee BH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Kwon K; 3billion, Inc, Seoul, South Korea., Seo GH; 3billion, Inc, Seoul, South Korea., Lee H; 3billion, Inc, Seoul, South Korea., Saeed A; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan., Anjum N; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan., Cheema H; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan., Alawbathani S; CENTOGENE GmbH, 18055 Rostock, Germany., Khan I; CENTOGENE GmbH, 18055 Rostock, Germany., Pinto-Basto J; CENTOGENE GmbH, 18055 Rostock, Germany., Teoh J; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore., Wong J; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore., Sahari UBM; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Zhelcheska K; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Pannetier M; Service d'Hématologie cellulaire et hémostase bioclinique, CHU Rennes, Rennes, France., Awad MA; Clinical and Chemical Pathology Department, Medical Research and Clinical Studies Institute National Research Centre, Cairo, Egypt., Lesieur-Sebellin M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France., Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France., Amiel J; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France., Delanne J; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Philippe C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Faivre L; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Odent S; Service de Génétique Clinique, Centre Référence Anomalies du Développement CLAD Ouest, Univ Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, CNRS Inserm UMR 6290, ERL 1305, Univ Rennes, Rennes, France., Bertoli-Avella A; CENTOGENE GmbH, 18055 Rostock, Germany., Thauvin C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Centre de référence maladies rares « déficiences intellectuelles de causes rares », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Reversade B; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore; Medical Genetics Department, School of Medicine, Koç University, Istanbul, Turkey; Smart-Health Initiative, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia., Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Govin J; University Grenoble Alpes, Inserm, CNRS, Institute for Advanced Biosciences, 38000 Grenoble, France., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Vitobello A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France. Electronic address: antonio.vitobello@u-bourgogne.fr.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 Oct 06; Vol. 109 (10), pp. 1909-1922. Date of Electronic Publication: 2022 Aug 30.
Autor:
Almeida LS; CENTOGENE GmbH, 18055, Rostock, Germany., Pereira C; CENTOGENE GmbH, 18055, Rostock, Germany., Aanicai R; CENTOGENE GmbH, 18055, Rostock, Germany., Schröder S; CENTOGENE GmbH, 18055, Rostock, Germany., Bochinski T; CENTOGENE GmbH, 18055, Rostock, Germany., Kaune A; CENTOGENE GmbH, 18055, Rostock, Germany., Urzi A; CENTOGENE GmbH, 18055, Rostock, Germany., Spohr TCLS; CENTOGENE GmbH, 18055, Rostock, Germany., Viceconte N; CENTOGENE GmbH, 18055, Rostock, Germany., Oppermann S; CENTOGENE GmbH, 18055, Rostock, Germany., Alasel M; CENTOGENE GmbH, 18055, Rostock, Germany., Ebadat S; CENTOGENE GmbH, 18055, Rostock, Germany., Iftikhar S; CENTOGENE GmbH, 18055, Rostock, Germany., Jasinge E; Lady Ridgeway Hospital for Children, Colombo, Sri Lanka., Elsayed SM; Medical Genetics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Tomoum H; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Marzouk I; Alexandria University Children Hospital, Alexandria, Egypt., Jalan AB; Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) / Pediatric Geneticist, Navi Mumbai, India., Cerkauskaite A; Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Cerkauskiene R; Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia., Nadeem AM; Pediatric Gastroenterology, Hepatology and Nutrition, the Children's Hospital and Institute of Child Health, Lahore, Pakistan., El Din Mahmoud IG; Cairo University Children Hospital (Abu El Reesh Children's Hospital), Metabolic, Neurology, Cairo, Egypt., Mossad FA; Cairo University Children Hospital (Abu El Reesh Children's Hospital), Metabolic, Neurology, Cairo, Egypt., Kamel M; Cairo University Children Hospital (Abu El Reesh Children's Hospital), Metabolic, Neurology, Cairo, Egypt., Selim LA; Cairo University Children Hospital (Abu El Reesh Children's Hospital), Metabolic, Neurology, Cairo, Egypt., Cheema HA; Pediatric Gastroenterology, Hepatology and Nutrition, the Children's Hospital and Institute of Child Health, Lahore, Pakistan., Paknia O; CENTOGENE GmbH, 18055, Rostock, Germany., Cozma C; CENTOGENE GmbH, 18055, Rostock, Germany., Juaristi-Manrique C; CENTOGENE GmbH, 18055, Rostock, Germany., Guatibonza-Moreno P; CENTOGENE GmbH, 18055, Rostock, Germany., Böttcher T; CENTOGENE GmbH, 18055, Rostock, Germany., Vogel F; CENTOGENE GmbH, 18055, Rostock, Germany., Pinto-Basto J; CENTOGENE GmbH, 18055, Rostock, Germany., Bertoli-Avella A; CENTOGENE GmbH, 18055, Rostock, Germany. aida.bertoli-avella@centogene.com., Bauer P; CENTOGENE GmbH, 18055, Rostock, Germany.; Department of Oncology, University Medical Center Rostock, Rostock, Germany.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Sep; Vol. 30 (9), pp. 1029-1035. Date of Electronic Publication: 2022 May 25.
Autor:
Santos, M., Pinto-Basto, J., Rio, M.E., Sá, M.J., Valença, A., Sá, A., Dinis, J., Figueiredo, J., Bigotte de Almeida, L., Coelho, I., Sawcer, S., Setakis, E., Compston, A., Sequeiros, J., Maciel, P. *
Publikováno v:
In Journal of Neuroimmunology 2003 143(1):112-115
Autor:
Carvalho A; Neurology Department, Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal. farna_07@hotmail.com., Nunes J; Neuroradiology Unit, Imagiology Department, Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal., Taipa R; Neuropathology Unit, Hospital de Santo António - Centro Hospitalar Universitário do Porto, Porto, Portugal., Melo Pires M; Neuropathology Unit, Hospital de Santo António - Centro Hospitalar Universitário do Porto, Porto, Portugal., Pinto Basto J; CGC Genetics, Porto, Portugal., Barros P; Neurology Department, Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal.
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Jul; Vol. 42 (7), pp. 2955-2959. Date of Electronic Publication: 2021 Jan 31.
Autor:
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Kanani F; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Koenig MK; Department of Pediatrics, University of Texas McGovern Medical School, Houston, Texas, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Rosmaninho-Salgado J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Almeida PM; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Sá J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Pinto Basto J; Molecular Diagnostics and Clinical Genomics, CGC Genetics, Porto, Portugal., Palen E; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Oetjens KF; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jul; Vol. 185 (7), pp. 2037-2045. Date of Electronic Publication: 2021 Apr 13.
Autor:
Barbosa, M, Sousa, AB, Medeira, A, Lourenço, T, Saraiva, J, Pinto-Basto, J, Soares, G, Fortuna, AM, Superti-Furga, A, Mittaz, L, Reis-Lima, M, Bonafé, L
Publikováno v:
Clinical Genetics; Dec2011, Vol. 80 Issue 6, p550-557, 8p, 2 Black and White Photographs, 1 Diagram, 1 Chart
Publikováno v:
Clinical Genetics; Oct2010, Vol. 78 Issue 4, p381-387, 7p, 2 Diagrams, 5 Charts
Autor:
Hoffman-Zacharska, Dorota1,2 (AUTHOR) anna.sulek@lazarski.pl, Sulek, Anna2,3 (AUTHOR)
Publikováno v:
International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8190. 11p.