Your browser doesn't support javascript.
loading
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Schmidt, Johanna L; Pizzino, Amy; Nicholl, Jessica; Foley, Allison; Wang, Yue; Rosenfeld, Jill A; Mighion, Lindsey; Bean, Lora; da Silva, Cristina; Cho, Megan T; Truty, Rebecca; Garcia, John; Speare, Virginia; Blanco, Kirsten; Powis, Zoe; Hobson, Grace M; Kirwin, Susan; Krock, Bryan; Lee, Hane; Deignan, Joshua L; Westemeyer, Maggie A; Subaran, Ryan L; Thiffault, Isabelle; Tsai, Ellen A; Fang, Terry; Helman, Guy; Vanderver, Adeline.
Afiliação
  • Schmidt JL; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Pizzino A; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Nicholl J; Lurie Children's Hospital, Chicago, Illinois, USA.
  • Foley A; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
  • Wang Y; Department of Molecular & Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, Texas, USA.
  • Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, Texas, USA.
  • Mighion L; EGL Genetics, Tucker, Georgia, USA.
  • Bean L; EGL Genetics, Tucker, Georgia, USA.
  • da Silva C; EGL Genetics, Tucker, Georgia, USA.
  • Cho MT; GeneDx, Gaithersburg, Maryland, USA.
  • Truty R; Invitae, San Francisco, California, USA.
  • Garcia J; Invitae, San Francisco, California, USA.
  • Speare V; Ambry Genetics, Aliso Viejo, California, USA.
  • Blanco K; Ambry Genetics, Aliso Viejo, California, USA.
  • Powis Z; Ambry Genetics, Aliso Viejo, California, USA.
  • Hobson GM; Nemours/Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.
  • Kirwin S; Nemours/Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.
  • Krock B; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Lee H; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA.
  • Deignan JL; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.
  • Westemeyer MA; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA.
  • Subaran RL; Natera Inc., San Carlos, California, USA.
  • Thiffault I; CooperGenomics, Livingston, New Jersey, USA.
  • Tsai EA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
  • Fang T; Biogen, Cambridge, Massachusetts, USA.
  • Helman G; Biogen, Cambridge, Massachusetts, USA.
  • Vanderver A; Murdoch Children' Research Institute, The Royal Children's Hospital, Parkville, Australia.
Am J Med Genet A ; 182(8): 1906-1912, 2020 08.
Article em En | MEDLINE | ID: mdl-32573057
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / RNA Polimerase III / Doenças Desmielinizantes / Doenças Autoimunes do Sistema Nervoso / Doença de Pelizaeus-Merzbacher / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / RNA Polimerase III / Doenças Desmielinizantes / Doenças Autoimunes do Sistema Nervoso / Doença de Pelizaeus-Merzbacher / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos