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De novo mutations in PURA are associated with hypotonia and developmental delay.
Tanaka, Akemi J; Bai, Renkui; Cho, Megan T; Anyane-Yeboa, Kwame; Ahimaz, Priyanka; Wilson, Ashley L; Kendall, Fran; Hay, Beverly; Moss, Timothy; Nardini, Monica; Bauer, Mislen; Retterer, Kyle; Juusola, Jane; Chung, Wendy K.
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  • Tanaka AJ; Department of Pediatrics, Columbia University Medical Center, New York, New York 10029, USA;
  • Bai R; GeneDx, Gaithersburg, Maryland 20877, USA;
  • Cho MT; GeneDx, Gaithersburg, Maryland 20877, USA;
  • Anyane-Yeboa K; Department of Pediatrics, Columbia University Medical Center, New York, New York 10029, USA;
  • Ahimaz P; Department of Pediatrics, Columbia University Medical Center, New York, New York 10029, USA;
  • Wilson AL; Department of Pediatrics, Columbia University Medical Center, New York, New York 10029, USA;
  • Kendall F; VMP Genetics, Roswell, Georgia 30076, USA;; Department of Kinesiology, University of Georgia, Athens, Georgia 30605, USA;
  • Hay B; Division of Genetics, UMass Memorial Medical Center, Worcester, Massachusetts 01655, USA;
  • Moss T; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, Ohio 44195, USA;
  • Nardini M; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, Ohio 44195, USA;
  • Bauer M; Department of Genetics, Miami Children's Hospital, Miami, Florida 33155, USA;
  • Retterer K; GeneDx, Gaithersburg, Maryland 20877, USA;
  • Juusola J; GeneDx, Gaithersburg, Maryland 20877, USA;
  • Chung WK; Department of Pediatrics, Columbia University Medical Center, New York, New York 10029, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.
Cold Spring Harb Mol Case Stud ; 1(1): a000356, 2015 Oct.
Article en En | MEDLINE | ID: mdl-27148565
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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: 2015 Tipo del documento: Article
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: 2015 Tipo del documento: Article