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Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Jordan, Valerie K; Fregeau, Brieana; Ge, Xiaoyan; Giordano, Jessica; Wapner, Ronald J; Balci, Tugce B; Carter, Melissa T; Bernat, John A; Moccia, Amanda N; Srivastava, Anshika; Martin, Donna M; Bielas, Stephanie L; Pappas, John; Svoboda, Melissa D; Rio, Marlène; Boddaert, Nathalie; Cantagrel, Vincent; Lewis, Andrea M; Scaglia, Fernando; Kohler, Jennefer N; Bernstein, Jonathan A; Dries, Annika M; Rosenfeld, Jill A; DeFilippo, Colette; Thorson, Willa; Yang, Yaping; Sherr, Elliott H; Bi, Weimin; Scott, Daryl A.
Afiliación
  • Jordan VK; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.
  • Fregeau B; Department of Neurology, University of California, San Francisco, San Francisco, California.
  • Ge X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Giordano J; Baylor Genetics, Houston, Texas.
  • Wapner RJ; Institute of Genomic Medicine and Department of OB/GYN, Columbia University Medical Center, New York, New York.
  • Balci TB; Institute of Genomic Medicine and Department of OB/GYN, Columbia University Medical Center, New York, New York.
  • Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Bernat JA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Moccia AN; Stead Family Department of Pediatrics, The University of Iowa, Iowa City, Iowa.
  • Srivastava A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.
  • Martin DM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.
  • Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.
  • Pappas J; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan.
  • Svoboda MD; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.
  • Rio M; New York University School of Medicine, New York, New York.
  • Boddaert N; Department of Pediatrics, Children's Hospital of San Antonio/Baylor College of Medicine, San Antonio, Texas.
  • Cantagrel V; Laboratory of Developmental Brain Disorders, INSERM UMR 1163, Paris, France.
  • Lewis AM; Service de Génétique, Necker Enfants Malades University Hospital, APHP, Paris, France.
  • Scaglia F; Laboratory of Developmental Brain Disorders, INSERM UMR 1163, Paris, France.
  • Kohler JN; Laboratory of Developmental Brain Disorders, INSERM UMR 1163, Paris, France.
  • Bernstein JA; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Dries AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Rosenfeld JA; Texas Children's Hospital, Houston, Texas.
  • DeFilippo C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Thorson W; Texas Children's Hospital, Houston, Texas.
  • Sherr EH; Stanford University School of Medicine, Stanford, California.
  • Bi W; Stanford University School of Medicine, Stanford, California.
  • Scott DA; Stanford University School of Medicine, Stanford, California.
Hum Mutat ; 39(5): 666-675, 2018 05.
Article en En | MEDLINE | ID: mdl-29330883
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Portadoras / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Portadoras / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article