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A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Moskowitz, Abby M; Belnap, Newell; Siniard, Ashley L; Szelinger, Szabolcs; Claasen, Ana M; Richholt, Ryan F; De Both, Matt; Corneveaux, Jason J; Balak, Chris; Piras, Ignazio S; Russell, Megan; Courtright, Amanda L; Rangasamy, Sampath; Ramsey, Keri; Craig, David W; Narayanan, Vinodh; Huentelman, Matt J; Schrauwen, Isabelle.
Afiliación
  • Moskowitz AM; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Belnap N; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Siniard AL; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Szelinger S; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Claasen AM; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Richholt RF; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • De Both M; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Corneveaux JJ; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Balak C; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Piras IS; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Russell M; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Courtright AL; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Rangasamy S; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Ramsey K; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Craig DW; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Narayanan V; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Huentelman MJ; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
  • Schrauwen I; Center for Rare Childhood Disorders and Neurogenomics Division Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
Cold Spring Harb Mol Case Stud ; 2(5): a000851, 2016 Sep.
Article en En | MEDLINE | ID: mdl-27626064
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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos