학술논문
'학술논문'
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Academic Journal
Khabou B; Research laboratory of Neuropediatrics LR19ES15, Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia. Boudour.khabou.bio@gmail.com.; Sahari UBM; Laboratory of Regulatory Genomics, Genome Institute of Singapore, ASTAR, Singapore, Singapore.; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Ben Issa A; Research laboratory of Neuropediatrics LR19ES15, Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia.; Bouchaala W; Research laboratory of Neuropediatrics LR19ES15, Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia.; Child Neurology department, Hedi Chaker University Hospital of Sfax, Sfax, Tunisia.; Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia.; Szenker-Ravi E; Smart-Health Initiative, Biological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Yu Jin Ng A; MGI Tech, Singapore, Singapore.; Bonnard C; ASTAR Skin Research Labs (ASRL), Singapore, Singapore.; Mbarek H; Qatar Genome Program, Qatar Science and Technology Park, Qatar Foundation, Doha, Qatar.; Zeyaul I; Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University, Education City, Qatar Foundation, Doha, Qatar.; Fakhfakh F; Laboratory of Molecular and Functional Genetics, Faculty of Sciences of Sfax, Sfax University, Sfax, Tunisia.; Kammoun F; Research laboratory of Neuropediatrics LR19ES15, Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia.; Child Neurology department, Hedi Chaker University Hospital of Sfax, Sfax, Tunisia.; Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia.; Reversade B; Smart-Health Initiative, Biological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Medical Genetics Department, School of Medicine, Koç University, Istanbul, Turkey.; Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Charfi Triki C; Research laboratory of Neuropediatrics LR19ES15, Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia.; Child Neurology department, Hedi Chaker University Hospital of Sfax, Sfax, Tunisia.; Faculty of Medicine of Sfax, Sfax University, Sfax, Tunisia.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Academic Journal
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.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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