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Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Kanani, Farah; Titheradge, Hannah; Cooper, Nicola; Elmslie, Frances; Lees, Melissa M; Juusola, Jane; Pisani, Laura; McKenna, Carolyn; Mignot, Cyril; Valence, Stephanie; Keren, Boris; Lachlan, Katherine; Balasubramanian, Meena.
Afiliación
  • Kanani F; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Titheradge H; Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Cooper N; Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Elmslie F; South West Thames Regional Genetics Service, St George's, University of London, UK.
  • Lees MM; North East Regional Genetics Service, Great Ormond Street Hospital, London, UK.
  • Juusola J; Clinical Genomics and Research Programs, Gaithersburg, Maryland.
  • Pisani L; Human Genetics & Genomics, Northwell Health System, New York, USA.
  • McKenna C; Human Genetics & Genomics, Northwell Health System, New York, USA.
  • Mignot C; Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, France.
  • Valence S; Assistance Publique-Hôpitaux de Paris, Service de Neuropédiatrie, Hôpital Armand Trousseau.
  • Keren B; Département de génétique, hôpital Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, France.
  • Lachlan K; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Am J Med Genet A ; 182(4): 713-720, 2020 04.
Article en En | MEDLINE | ID: mdl-31926053
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Mutación Missense / Proteínas 14-3-3 / Estudios de Asociación Genética / Trastornos del Neurodesarrollo / Síndromes Epilépticos / Heterocigoto Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Mutación Missense / Proteínas 14-3-3 / Estudios de Asociación Genética / Trastornos del Neurodesarrollo / Síndromes Epilépticos / Heterocigoto Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido