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Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
Taylor, James; Spiller, Michael; Ranguin, Kara; Vitobello, Antonio; Philippe, Christophe; Bruel, Ange-Line; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Willems, Marjolaine; Isidor, Bertrand; Park, Kristen; Balasubramanian, Meena.
Afiliação
  • Taylor J; Medical School, University of Sheffield, Sheffield, UK.
  • Spiller M; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Ranguin K; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen, France.
  • Vitobello A; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.
  • Philippe C; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.
  • Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France.
  • Cappuccio G; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.
  • Brunetti-Pierri N; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France.
  • Willems M; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.
  • Isidor B; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.
  • Park K; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
  • Balasubramanian M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, INM, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
Am J Med Genet A ; 188(5): 1497-1514, 2022 05.
Article em En | MEDLINE | ID: mdl-35138025
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Diagnostic_studies Limite: Child / Child, preschool / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Diagnostic_studies Limite: Child / Child, preschool / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article