المؤلفون: Lauren M Watson, Becker Ebe., Wong Mmk.

المصدر: Journal of neurology & neuromedicine
Journal of Neurology and Neuromedicine
Journal of Neurology & Neuromedicine

مصطلحات موضوعية: Cerebellum, Ataxia, Disease, Development, Article, 03 medical and health sciences, 0302 clinical medicine, medicine, Neurodegeneration, Induced pluripotent stem cell, 030304 developmental biology, 0303 health sciences, iPSC, Cerebellar ataxia, business.industry, Disease progression, medicine.disease, 3. Good health, Disease modelling, medicine.anatomical_structure, Purkinje cells, medicine.symptom, business, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6e737f804ba0fcd6380448e5eb06894

المؤلفون: de Boer E; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Ockeloen CW; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Kampen RA; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Hampstead JE; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., Dingemans AJM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Rots D; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Lütje L; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Ashraf T; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Baker R; Advocate Children's Hospital, Park Ridge, IL., Barat-Houari M; Genetic Laboratory of Rare and Autoinflammatory Diseases, Department of Medical Genetics, Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Angle B; Advocate Children's Hospital, Park Ridge, IL., Chatron N; Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Denommé-Pichon AS; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Devinsky O; Department of Neurology, NYU Grossman School of Medicine, NYU Langone Health, New York, NY., Dubourg C; Service de Génétique Moléculaire et Génomique Médicale, CHU de Rennes, Rennes, France; University of Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Elmslie F; South West Thames Regional Clinical Genetics Service, St George's Hospital, University of London, London, United Kingdom., Elloumi HZ; GeneDx, Gaithersburg, MD., Faivre L; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France., Fitzgerald-Butt S; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN., Geneviève D; Medical Genetic Department, Rare Diseases and Personalized Medicine, Montpellier University, Inserm U1183, CHU Montpellier, Montpellier, France., Goos JAC; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Epidemiology, Richard M. Fairbanks School of Public Health, Indiana University, Indianapolis, IN., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Crumlin and Temple Street, Dublin, Ireland., Mathijssen IMJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Scottish Genomes Partnership, Glasgow, United Kingdom., Monaghan KG; GeneDx, Gaithersburg, MD., Odent S; CHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France., Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Putoux A; Service de Génétique - Centre de Référence Anomalies du Développement, Hospices Civils de Lyon, Bron, France; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., van Reeuwijk J; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sasaki E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Sorlin A; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., van der Spek PJ; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Stegmann APA; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Swagemakers SMA; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Viora-Dupont E; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., Vitobello A; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Ware SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN., Wéber M; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., Gilissen C; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., Low KJ; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Fisher SE; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Wong MMK; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100962. Date of Electronic Publication: 2023 Sep 01.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: de Boer E; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Ockeloen CW; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Electronic address: Charlotte.Ockeloen@radboudumc.nl., Kampen RA; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Hampstead JE; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., Dingemans AJM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Rots D; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Lütje L; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Ashraf T; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Baker R; Advocate Children's Hospital, Park Ridge, IL., Barat-Houari M; Genetic Laboratory of Rare and Autoinflammatory Diseases, Department of Medical Genetics, Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Angle B; Advocate Children's Hospital, Park Ridge, IL., Chatron N; Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Denommé-Pichon AS; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Devinsky O; Department of Neurology, NYU Grossman School of Medicine, NYU Langone Health, New York, NY., Dubourg C; Service de Génétique Moléculaire et Génomique Médicale, CHU de Rennes, Rennes, France; University of Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Elmslie F; South West Thames Regional Clinical Genetics Service, St George's Hospital, University of London, London, United Kingdom., Elloumi HZ; GeneDx, Gaithersburg, MD., Faivre L; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France., Fitzgerald-Butt S; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN., Geneviève D; Medical Genetic Department, Rare Diseases and Personalized Medicine, Montpellier University, Inserm U1183, CHU Montpellier, Montpellier, France., Goos JAC; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Epidemiology, Richard M. Fairbanks School of Public Health, Indiana University, Indianapolis, IN., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Crumlin and Temple Street, Dublin, Ireland., Mathijssen IMJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Scottish Genomes Partnership, Glasgow, United Kingdom., Monaghan KG; GeneDx, Gaithersburg, MD., Odent S; CHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France., Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Putoux A; Service de Génétique - Centre de Référence Anomalies du Développement, Hospices Civils de Lyon, Bron, France; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., van Reeuwijk J; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sasaki E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Sorlin A; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., van der Spek PJ; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Stegmann APA; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Swagemakers SMA; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Viora-Dupont E; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., Vitobello A; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Ware SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN., Wéber M; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., Gilissen C; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., Low KJ; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Fisher SE; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Wong MMK; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2051-2064. Date of Electronic Publication: 2022 Jul 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/genetics , Bone Diseases, Developmental*/etiology , Bone Diseases, Developmental*/genetics , Intellectual Disability*/genetics , Repressor Proteins*/genetics , Tooth Abnormalities*/diagnosis, Chromosome Deletion ; Facies ; Humans ; Mutation, Missense ; Phenotype ; Proteasome Endopeptidase Complex/genetics ; Transcription Factors/genetics

SCR Disease Name: KBG syndrome

المؤلفون: Morgan A; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. angela.morgan@mcri.edu.au.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia. angela.morgan@mcri.edu.au.; Royal Children's Hospital, Melbourne, Victoria, Australia. angela.morgan@mcri.edu.au.; Victorian Clinical Genetics Service, Melbourne, Victoria, Australia. angela.morgan@mcri.edu.au.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville, Victoria, Australia. angela.morgan@mcri.edu.au., Braden R; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Parkville, Victoria, Australia., Wong MMK; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Colin E; Service de Génétique Médicale, Centre Hospitalier Universitaire d'Angers, Angers, France., Amor D; Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Service, Melbourne, Victoria, Australia., Liégeois F; UCL Great Ormond Street Institute of Child Health, London, UK., Srivastava S; Boston Children's, Harvard Medical Centre, Boston, MA, USA., Vogel A; Centre for Neuroscience of Speech, Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, Victoria, Australia., Bizaoui V; Service de Génétique, Centre Hospitalier Universitaire Caen Normandie, Caen, France., Ranguin K; Service de Génétique, Centre Hospitalier Universitaire Caen Normandie, Caen, France., Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., van Bon BW; Radboud University Medical centre, Nijmegen, The Netherlands.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Aug; Vol. 29 (8), pp. 1216-1225. Date of Electronic Publication: 2021 Apr 27.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Language Development*, Carrier Proteins/*genetics , Nuclear Proteins/*genetics , Speech Disorders/*genetics, Adolescent ; Child ; Female ; Haploinsufficiency ; Humans ; Male ; Phenotype ; Speech Disorders/pathology ; Young Adult

المؤلفون: Jansen NA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Braden RO; Speech and Language, Murdoch Children's Research Institute, Victoria, Australia., Srivastava S; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Otness EF; Deparment of Pediatrics, Texas Children's Pediatrics Sugar Land, Sugar Land, USA., Lesca G; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Rossi M; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes, France., Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, USA., Quelin C; Service de Genetique Medicale, CLAD Ouest CHU Hôpital Sud, Rennes, France., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Wong MMK; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Whalen S; Clinical and Medical Genetic Department, Armand Trousseau Hospital, APHP, Paris, France., Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Morgan AT; Speech and Language, Murdoch Children's Research Institute, Victoria, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, Australia., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Bregje.vanBon@radboudumc.nl.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Aug; Vol. 29 (8), pp. 1198-1205. Date of Electronic Publication: 2021 Apr 19.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Haploinsufficiency* , Phenotype*, Attention Deficit Disorder with Hyperactivity/*genetics , Carrier Proteins/*genetics , Developmental Disabilities/*genetics , Intellectual Disability/*genetics , Nuclear Proteins/*genetics, Adolescent ; Adult ; Aged ; Attention Deficit Disorder with Hyperactivity/pathology ; Child ; Child, Preschool ; Developmental Disabilities/pathology ; Female ; Humans ; Infant ; Intellectual Disability/pathology ; Loss of Function Mutation ; Male ; Middle Aged ; Syndrome

المؤلفون: Chow VLY; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Chan JYW; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Ho VWY; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Pang SSY; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Lee GCC; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Wong MMK; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Lo ASH; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Lui F; Department of Anesthesiology, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Poon CCM; Department of Anesthesiology, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Wong STS; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China.

المصدر: Head & neck [Head Neck] 2020 Jul; Vol. 42 (7), pp. 1367-1373. Date of Electronic Publication: 2020 May 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley And Sons Country of Publication: United States NLM ID: 8902541 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0347 (Electronic) Linking ISSN: 10433074 NLM ISO Abbreviation: Head Neck Subsets: MEDLINE

مواضيع طبية MeSH: Occupational Health*, Coronavirus Infections/*prevention & control , Infection Control/*methods , Infectious Disease Transmission, Patient-to-Professional/*prevention & control , Pandemics/*prevention & control , Pneumonia, Viral/*prevention & control , Tracheostomy/*methods, COVID-19 ; Coronavirus Infections/epidemiology ; Female ; Health Personnel/statistics & numerical data ; Hong Kong ; Humans ; Male ; Pandemics/statistics & numerical data ; Pneumonia, Viral/epidemiology ; Protective Devices/statistics & numerical data ; Retrospective Studies ; Sampling Studies

المؤلفون: Chow VLY; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Chan JYW; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Ho VWY; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Lee GCC; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Wong MMK; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Wong STS; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China., Gao W; Division of Head and Neck Surgery, Department of Surgery, University of Hong Kong Li Ka Shing Faculty of Medicine, Queen Mary Hospital, Hong Kong, China.

المصدر: Head & neck [Head Neck] 2020 Jun; Vol. 42 (6), pp. 1187-1193. Date of Electronic Publication: 2020 Apr 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley And Sons Country of Publication: United States NLM ID: 8902541 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0347 (Electronic) Linking ISSN: 10433074 NLM ISO Abbreviation: Head Neck Subsets: MEDLINE

مواضيع طبية MeSH: Occupational Health*, Coronavirus Infections/*epidemiology , Infectious Disease Transmission, Patient-to-Professional/*prevention & control , Monitoring, Intraoperative/*methods , Pandemics/*statistics & numerical data , Personal Protective Equipment/*virology , Pneumonia, Viral/*epidemiology, COVID-19 ; Centers for Disease Control and Prevention, U.S./standards ; Cohort Studies ; Communicable Disease Control/methods ; Coronavirus Infections/prevention & control ; Equipment Safety ; Female ; Humans ; Male ; Operating Rooms/standards ; Pandemics/prevention & control ; Personal Protective Equipment/standards ; Pneumonia, Viral/prevention & control ; Practice Guidelines as Topic ; Retrospective Studies ; United States

المؤلفون: Wong MMK; Department of Physiology, Anatomy and Genetics, University of Oxford, Sherrington Road, Oxford, OX1 3PT, UK., Hoekstra SD; Department of Physiology, Anatomy and Genetics, University of Oxford, Sherrington Road, Oxford, OX1 3PT, UK., Vowles J; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK., Watson LM; Department of Physiology, Anatomy and Genetics, University of Oxford, Sherrington Road, Oxford, OX1 3PT, UK., Fuller G; Gloucestershire Hospitals, NHS Foundation Trust, Cheltenham General Hospital, Sandford Road, Cheltenham, GL53 7AN, UK., Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Level 6, West Wing, John Radcliffe Hospital, Oxford, OX3 9DU, UK.; Oxford Centre for Genomic Medicine, ACE Building, Oxford University Hospitals NHS Trust, Nuffield Orthopaedic Centre, Windmill Road, Oxford, OX3 7HE, UK., Cowley SA; Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK., Ansorge O; Nuffield Department of Clinical Neurosciences, University of Oxford, Level 6, West Wing, John Radcliffe Hospital, Oxford, OX3 9DU, UK., Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, Level 6, West Wing, John Radcliffe Hospital, Oxford, OX3 9DU, UK., Becker EBE; Department of Physiology, Anatomy and Genetics, University of Oxford, Sherrington Road, Oxford, OX1 3PT, UK. esther.becker@dpag.ox.ac.uk.

المصدر: Acta neuropathologica communications [Acta Neuropathol Commun] 2018 Sep 24; Vol. 6 (1), pp. 99. Date of Electronic Publication: 2018 Sep 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE

مواضيع طبية MeSH: Spinocerebellar Ataxias*/complications , Spinocerebellar Ataxias*/genetics , Spinocerebellar Ataxias*/pathology, Nerve Degeneration/*enzymology , Nerve Degeneration/*etiology , Protein Aggregation, Pathological/*etiology , Protein Kinases/*metabolism , Protein Transport/*genetics, Adult ; Aged ; Autopsy ; Catalytic Domain/drug effects ; Cerebellum/pathology ; Female ; Humans ; Induced Pluripotent Stem Cells/pathology ; Male ; Middle Aged ; Models, Biological ; Mutation/genetics ; Protein Aggregation, Pathological/genetics ; Protein Kinase C/genetics ; Protein Kinase C/metabolism

SCR Disease Name: Spinocerebellar ataxia 14

المؤلفون: Watson LM; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK. lauren.watson@dpag.ox.ac.uk., Wong MMK; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK., Vowles J; Sir William Dunn School of Pathology, University of Oxford, Oxford, UK., Cowley SA; Sir William Dunn School of Pathology, University of Oxford, Oxford, UK., Becker EBE; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.

المصدر: Cerebellum (London, England) [Cerebellum] 2018 Aug; Vol. 17 (4), pp. 419-427.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum

مواضيع طبية MeSH: Neurogenesis*/physiology, Cell Culture Techniques/*methods , Induced Pluripotent Stem Cells/*physiology , Purkinje Cells/*physiology, Aged ; Animals ; Coculture Techniques ; Female ; Humans ; Induced Pluripotent Stem Cells/cytology ; Male ; Mice, Inbred C57BL ; Middle Aged ; Purkinje Cells/cytology ; Tissue Scaffolds

المؤلفون: Wong MMK; Department of Physiology, Anatomy and Genetics, University of Oxford, United Kingdom., Watson LM; Department of Physiology, Anatomy and Genetics, University of Oxford, United Kingdom., Becker EBE; Department of Physiology, Anatomy and Genetics, University of Oxford, United Kingdom.

المصدر: Journal of neurology & neuromedicine [J Neurol Neuromedicine] 2017 Jul 10; Vol. 2 (7), pp. 11-15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sciaccess Publishers Country of Publication: United States NLM ID: 101684512 Publication Model: Print Cited Medium: Print ISSN: 2572-942X (Print) Linking ISSN: 2572942X NLM ISO Abbreviation: J Neurol Neuromedicine Subsets: PubMed not MEDLINE