Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Bubshait DK"'
Autor:
Albuali WH, Algamdi AA, Hasan EA, Al-Qahtani MH, Yousef AA, Al Ghamdi MA, Bubshait DK, Alshahrani MS, AlQurashi FO, Bou Shahmah TA, Awary BH
Publikováno v:
Journal of Multidisciplinary Healthcare, Vol Volume 13, Pp 1507-1516 (2020)
Waleed H Albuali,1 Amal A Algamdi,2 Elham A Hasan,1 Mohammad H Al-Qahtani,1 Abdullah A Yousef,1 Mohammad A Al Ghamdi,1 Dalal K Bubshait,1 Mohammed S Alshahrani,3 Faisal O AlQurashi,1 Talal A Bou Shahmah,1 Bassam H Awary1 1Department of Pediatrics, Co
Externí odkaz:
https://doaj.org/article/ef2c86eae6194576816415e6a6f64172
Publikováno v:
The Application of Clinical Genetics, Vol Volume 11, Pp 107-110 (2018)
Saud Alsahli,1,2 Dalal K Bubshait,3 Zuhair A Rahbeeni,4 Majid Alfadhel1,2 1Medical Genomic Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; 2Divisi
Externí odkaz:
https://doaj.org/article/dce0807bed034e0fa64f35cbc05816f9
Autor:
Iqbal, M, Maroofian, R, Çavdarlı, B, Riccardi, F, Field, M, Banka, S, Bubshait, DK, Li, Y, Hertecant, J, Baig, SM, Dyment, D, Efthymiou, S, Abdullah, U, Makhdoom, EUH, Ali, Z, Scherf de Almeida, T, Molinari, F, Mignon-Ravix, C, Chabrol, B, Antony, J, Ades, L, Pagnamenta, AT, Jackson, A, Douzgou, S, Genomics England Research Consortium, Beetz, C, Karageorgou, V, Vona, B, Rad, A, Baig, JM, Sultan, T, Alvi, JR, Maqbool, S, Rahman, F, Toosi, MB, Ashrafzadeh, F, Imannezhad, S, Karimiani, EG, Sarwar, Y, Khan, S, Jameel, M, Noegel, AA, Budde, B, Altmüller, J, Motameny, S, Höhne, W, Houlden, H, Nürnberg, P, Wollnik, B, Villard, L, Alkuraya, FS, Osmond, M, Hussain, MS, Yigit, G
PURPOSE: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition. METHODS: We performed a detailed clinical characterization of 19 in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::5aae89648e8420f37c08e960fe0f9ab7
https://openaccess.sgul.ac.uk/id/eprint/113472/1/s41436-021-01260-4.pdf
https://openaccess.sgul.ac.uk/id/eprint/113472/1/s41436-021-01260-4.pdf
Autor:
Engel C; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France. cengel@chu-besancon.fr., Valence S; Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, APHP Sorbonne Université, Paris, France., Delplancq G; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Maroofian R; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK., Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Baglioni V; Department of Human Neurosciences, Institute of Child and Adolescent Neuropsychiatry, Sapienza University of Rome, Rome, Italy., Bagnasco I; Division of Neuropsychiatry, Epilepsy Center for Children, Martini Hospital, 10141, Turin, Italy., Becmeur-Lefebvre M; Service de Génétique Clinique, CHR d'Orléans, Orléans, France., Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Borggraefe I; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany., Brischoux-Boucher E; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Bruel AL; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Brusco A; Department of Medical Sciences, University of Torino, 10126, Turin, Italy., Bubshait DK; Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Cabrol C; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Cilio MR; Department of Pediatrics, Division of Pediatric Neurology Saint-Luc University Hospital, and Institute of Neuroscience (IoNS), Catholic University of Louvain, Brussels, Belgium., Cornet MC; Department of Pediatrics, Division of Neonatology, University of California San Francisco, San Francisco, CA, USA., Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France., Danhaive O; Division of Neonatology, Saint-Luc university Hospital, and Institut of Clinical and Experimental Research (IREC), Bruxelles, Belgium., Delague V; Aix Marseille Univ, INSERM, Marseille Medical Genetics Center, MMG, Marseille, France., Denommé-Pichon AS; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Di Giacomo MC; Medical Genetics Service and Laboratory of Cytogenetics, SIC Anatomia Patologica, 'San Carlo' Hospital, 85100, Potenza, Italy., Doco-Fenzy M; CHU Reims, Service de Génétique, Reims, France.; CHU de Nantes, service de génétique médicale, Nantes, France.; L'institut du thorax, INSERM, UNIV Nantes, Nantes, France., Engels H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany., Gérard M; Clinical Genetics, Côte de Nacre University Hospital Center, Caen, France., Gleeson JG; University of California San Diego, Department of Neurosciences, Rady Children's Institute for Genomic Medicine, San Diego, CA, 92037, USA., Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Goffeney J; Service de neuropédiatrie, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Guimier A; Service de Médecine Génomique des Maladies Rares, Hôpital Necker Enfants Malades, Institut Imagine et Université Paris-Cité, Paris, France., Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Houlden H; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK., Iacomino M; Unit of Medical Genetics, IRCCS Instituto Giannina Gaslini, Genova, Italy., Kaiyrzhanov R; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK., Kamien B; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, 6008, Australia., Karimiani EG; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW17 0RE, UK., Kraus D; Department of Neurology, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 6997801, Israel., Kuentz P; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Oncobiologie Génétique Bioinformatique, PCBio, CHU Besançon, Besançon, France., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lederer D; Institute for Pathology and Genetics, 6040, Gosselies, Belgium., Massingham L; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, RI, USA., Mignot C; APHP, Sorbonne Université, Département de Génétique, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, GH Pitié-Salpêtrière/Hôpital Armand Trousseau, Paris, France., Morris-Rosendahl D; Clinical Genetics and Genomics, Royal Brompton and Harefield NHS Foundation Trust, London, UK.; NHLI, Imperial College London, London, UK., Nagarajan L; Department of Neurology, Perth Children's Hospital, Nedlands, WA, Australia.; University of Western Australia, Nedlands, WA, Australia., Odent S; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre Référence Anomalies du développement (CLAD-Ouest), CHU Rennes, Univ Rennes, Rennes, France., Ormières C; Service de Médecine Génomique des Maladies Rares, Hôpital Necker Enfants Malades, Institut Imagine et Université Paris-Cité, Paris, France., Partlow JN; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Pasquier L; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre Référence Anomalies du développement (CLAD-Ouest), CHU Rennes, Univ Rennes, Rennes, France., Penney L; Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, NS, Canada., Philippe C; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Piccolo G; UOSD Neuro-oncology, IRCCS Giannina Gaslini, Genova, Italy., Poulton C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, 6008, Australia., Putoux A; Hospices Civils de Lyon, Service de Génétique, Bron, France.; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker Enfants Malades, Institut Imagine et Université Paris-Cité, Paris, France., Rougeot C; Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Bron, France., Salpietro V; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.; IRCCS Giannina Gaslini Institute, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Scheffer I; Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia.; Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia., Schneider A; Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Straussberg R; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 6997801, Israel., Striano P; IRCCS Giannina Gaslini Institute, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Venot P; Neonatal Intensive Care Unit, Institut Alix de Champagne, Reims, France., Villard L; Aix Marseille Univ, INSERM, Marseille Medical Genetics Center, MMG, Marseille, France.; Département de Génétique Médicale, AP-HM, Hôpital d'Enfants de La Timone, Marseille, France., Vitobello A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Wagner J; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany., Wagner M; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany.; Institute for Neurogenomics, Helmholtz Center Munich, Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zara F; IRCCS Giannina Gaslini Institute, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Lesca G; Hospices Civils de Lyon, Service de Génétique, Bron, France.; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Yassaee VR; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Beiraghi M; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Walsh C; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Tacke M; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany., Sadykova D; Astana Medical University, Nur-Sultan, Kazakhstan., Maidyrov Y; S. D. Asfendiyarov Kazakh National Medical University Almaty, Almaty, Kazakhstan., Koneev K; Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, 050000, Kazakhstan., Shashkin C; Department of Neurology, The International Institute of Postraduate Education, Almaty, Kazakhstan., Capra V; Unit of Medical Genetics, IRCCS Instituto Giannina Gaslini, Genova, Italy., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Van Maldergem L; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France., Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France., Piard J; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France.; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Sep; Vol. 31 (9), pp. 1023-1031. Date of Electronic Publication: 2023 Jun 21.
Autor:
Ammar A; Department of Neurosurgery, King Fahd Hospital of the University, Alkhobar College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Bubshait DK; Department of Pediatric, Generic Unit, King Fahd Hospital of the University, Alkhobar College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Al Ojan A; Department of Neurosurgery, King Fahd Hospital of the University, Alkhobar College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Alshari SA; Department of Neurosurgery, King Fahd Hospital of the University, Alkhobar College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Cyrus C; Department of Clinical Biochemistry, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Alanazi R; Department of Neurosurgery, King Fahd Hospital of the University, Alkhobar College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Al Ghamdi MA; Department of Pediatric, Generic Unit, King Fahd Hospital of the University, Alkhobar College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Keating BJ; Department of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Al-Anazi A; Department of Neurosurgery, King Fahd Hospital of the University, Alkhobar College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Al Qahtani NH; Department of Obstetrics and Gynecology, King Fahd Hospital of the University, Alkhobar College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Al-Ali AK; Department of Clinical Biochemistry, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia - aalali@iau.edu.sa.
Publikováno v:
Journal of neurosurgical sciences [J Neurosurg Sci] 2023 May 09. Date of Electronic Publication: 2023 May 09.
Autor:
Bubshait DK; Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Publikováno v:
Clinical and experimental pediatrics [Clin Exp Pediatr] 2023 May; Vol. 66 (5), pp. 223-225. Date of Electronic Publication: 2023 Mar 23.
Autor:
Bubshait DK; Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Publikováno v:
Medicine [Medicine (Baltimore)] 2022 Dec 16; Vol. 101 (50), pp. e32060.
Autor:
Rosenhahn E; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., O'Brien TJ; MRC London Institute of Medical Sciences, London W12 0NN, UK., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Sorge I; Department of Pediatric Radiology, University Hospital Leipzig, 04103 Leipzig, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany., Rostasy K; Department of Pediatric Neurology, Children's and Adolescents' Hospital Datteln, Witten/Herdecke University, 58448 Witten, Germany., Vitobello A; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, CHU Dijon Bourgogne, FHU translad, Génétique des Anomalies du Développement, INSERM UMR 1231, Université de Bourgogne-Franche Comté, 21070 Dijon, France., Nambot S; Centre de Génétique et Centre de référence des Maladies rare, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, 21079 Dijon, France., 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., Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alhashem A; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11211, Saudi Arabia; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Tabarki B; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Alamri AS; Department of Pediatrics, Imam Abdulrahman bin Faisal University, Dammam 34212, Saudi Arabia., Al Safar AH; Department of Pediatrics, Imam Abdulrahman bin Faisal University, Dammam 34212, Saudi Arabia., Bubshait DK; Department of Pediatrics, Imam Abdulrahman bin Faisal University, Dammam 34212, Saudi Arabia., Alahmady NF; Biology Department, Imam Abdulrahman bin Faisal University, Dammam 34212, Saudi Arabia., 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., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Lesko N; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 77 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden., Ygberg S; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 77 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden; Neuropediatric Unit, Department of Women's and Children's Health, Karolinska University Hospital, 171 77 Stockholm, Sweden., Correia SP; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden., Wredenberg A; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 77 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden., Alavi S; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran; Palindrome, Isfahan, Iran., Seyedhassani SM; Dr. Seyedhassani Medical Genetic Center, Yazd, Iran., Ebrahimi Nasab M; Dr. Seyedhassani Medical Genetic Center, Yazd, Iran., Hussien H; Alexandria University Children's Hospital, Faculty of Medicine, Alexandria University, Alexandria 21526, Egypt., Omar TEI; Alexandria University Children's Hospital, Faculty of Medicine, Alexandria University, Alexandria 21526, Egypt., Harzallah I; Clinical, Chromosomal and Molecular Genetics Department, University Hospital Center, 42270 Saint-Étienne, France., Touraine R; Clinical, Chromosomal and Molecular Genetics Department, University Hospital Center, 42270 Saint-Étienne, France., Tajsharghi H; School of Health Sciences, Translational Medicine, University of Skövde, 541 28 Skövde, Sweden., Morsy H; UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Houlden H; UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Shahrooei M; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, 3000 Leuven, Belgium., Ghavideldarestani M; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran., Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Torella A; Department of Precision Medicine, University of Campania Luigi Vanvitelli, 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 80078 Naples, Italy., Zanobio M; Department of Precision Medicine, University of Campania Luigi Vanvitelli, 80138 Naples, Italy., Terrone G; Child Neurology Unit, Department of Translational Medical Science, University of Naples Federico II, 80131 Naples, Italy., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, 80078 Naples, Italy; Department of Translational Medicine, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy., Omrani A; Division of Clinical Studies, The Persian Gulf Nuclear Medicine Research Center, Bushehr University of Medical Sciences, Bushehr, Iran., Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany; Center for Rare Diseases, University of Leipzig Medical Center, 04103 Leipzig, Germany., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Brown AEX; MRC London Institute of Medical Sciences, London W12 0NN, UK; Faculty of Medicine, Institute of Clinical Sciences, Imperial College London, London SW7 2AZ, UK. Electronic address: andre.brown@lms.mrc.ac.uk., Maroofian R; UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany. Electronic address: konrad.platzer@medizin.uni-leipzig.de.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 Aug 04; Vol. 109 (8), pp. 1421-1435. Date of Electronic Publication: 2022 Jul 12.
Autor:
Shamseldin HE, Shaheen R, Ewida N, Bubshait DK, Alkuraya H, Almardawi E, Howaidi A, Sabr Y, Abdalla EM, Alfaifi AY, Mohammed Alghamdi J, Alsagheir A, Alfares A, Morsy H, Hussein MH, Al-Muhaizea MA, Shagrani M, Al Sabban E, Salih MA, Meriki N, Khan R, Almugbel M, Qari A, Tulba M, Mahnashi M, Alhazmi K, Alsalamah AK, Nowilaty SR, Alhashem A, Hashem M, Abdulwahab F, Ibrahim N, Alshidi T, AlObeid E, Alenazi MM, Alzaidan H, Rahbeeni Z, Al-Owain M, Sogaty S, Zain Seidahmed M, Alkuraya FS
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 966.
Autor:
Albuali WH; Department of Pediatrics, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, AlKhobar, Saudi Arabia.; College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., AlGhamdi AA; Department of Family and Community Medicine, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Aldossary SJ; Department of Pediatrics, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, AlKhobar, Saudi Arabia.; College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., AlHarbi SA; Department of Pediatrics, Umm Al-Qura University, Makkah, Saudi Arabia.; Department of Pediatrics, Dr Soliman Fakeeh Hospital, Jeddah, Saudi Arabia., Al Majed SI; Department of Pediatrics, John Hopkins Aramco Healthcare, Dhahran, Saudi Arabia., Alenizi A; Pediatric Pulmonology and Sleep Medicine Department, King Saud Medical City, Riyadh, Saudi Arabia., Al-Qahtani MH; Department of Pediatrics, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, AlKhobar, Saudi Arabia.; Department of Pediatrics, Imam Abdulrahman Bin Faisal University College of Medicine, Dammam, Saudi Arabia., Lardhi AA; Department of Pediatrics, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, AlKhobar, Saudi Arabia.; College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Al-Turki SA; Department of Pediatrics, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, AlKhobar, Saudi Arabia.; College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., AlSanea AS; Department of Pediatrics, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, AlKhobar, Saudi Arabia.; College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Bubshait DK; Department of Pediatrics, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, AlKhobar, Saudi Arabia.; College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Kobeisy SA; Department of Pediatrics, Dr Soliman Fakeeh Hospital, Jeddah, Saudi Arabia., Herzallah NH; Department of Pediatrics, John Hopkins Aramco Healthcare, Dhahran, Saudi Arabia., Alqarni WA; Department of Pediatrics, John Hopkins Aramco Healthcare, Dhahran, Saudi Arabia., AlHarbi AH; Pediatric Pulmonology and Sleep Medicine Department, King Saud Medical City, Riyadh, Saudi Arabia., Albuali HW; College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Aldossary BJ; College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., AlQurashi FO; Department of Pediatrics, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, AlKhobar, Saudi Arabia faisal.alqurashi@yahoo.com.; College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia., Yousef AA; Department of Pediatrics, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, AlKhobar, Saudi Arabia.; College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Publikováno v:
BMJ open [BMJ Open] 2022 Mar 11; Vol. 12 (3), pp. e053722. Date of Electronic Publication: 2022 Mar 11.