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De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
Martin, R; Splitt, M; Genevieve, D; Aten, E; Collins, A; de Bie, C I; Faivre, L; Foulds, N; Giltay, J; Ibitoye, R; Joss, S; Kennedy, J; Kerr, B; Kivuva, E; Koopmans, M; Newbury-Ecob, R; Jean-Marçais, N; Peeters, E A J; Smithson, S; Tomkins, S; Tranmauthem, F; Piton, A; van Haeringen, A.
Afiliación
  • Martin R; Institute of Genetic Medicine, Newcastle upon Tyne, England. richard.martin11@nhs.net.
  • Splitt M; Institute of Genetic Medicine, Newcastle upon Tyne, England.
  • Genevieve D; Medical Genetics Department, Rare Diseases and Personalized Medicine, Montpellier University Hospital, Montpellier, France.
  • Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Collins A; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, England.
  • de Bie CI; Division Biomedical Genetics, Genetics Department, University Medical Center Utrecht, Utrecht, Netherlands.
  • Faivre L; Centre de Génétique, Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'enfants, Dijon, France.
  • Foulds N; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, England.
  • Giltay J; Division Biomedical Genetics, Genetics Department, University Medical Center Utrecht, Utrecht, Netherlands.
  • Ibitoye R; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, England.
  • Joss S; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, Scotland.
  • Kennedy J; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England.
  • Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre, Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, Manchester, England.
  • Kivuva E; Peninsula Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, England.
  • Koopmans M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Newbury-Ecob R; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England.
  • Jean-Marçais N; Centre de Génétique, Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'enfants, Dijon, France.
  • Peeters EAJ; Department of Child Neurology, HAGA/Juliana Children's Hospital, The Hague, Netherlands.
  • Smithson S; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England.
  • Tomkins S; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, England.
  • Tranmauthem F; Centre de Génétique, Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Hôpital d'enfants, Dijon, France.
  • Piton A; Lab. de diagnostic génétique des HUS, Strasbourg, France.
  • van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Eur J Hum Genet ; 27(11): 1677-1682, 2019 11.
Article en En | MEDLINE | ID: mdl-31201375
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Variación Genética / Predisposición Genética a la Enfermedad / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Variación Genética / Predisposición Genética a la Enfermedad / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido