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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.
Wohler, Elizabeth; Martin, Renan; Griffith, Sean; Rodrigues, Eliete da S; Antonescu, Corina; Posey, Jennifer E; Coban-Akdemir, Zeynep; Jhangiani, Shalini N; Doheny, Kimberly F; Lupski, James R; Valle, David; Hamosh, Ada; Sobreira, Nara.
Afiliação
  • Wohler E; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Martin R; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Griffith S; Center for Inherited Disease Research - CIDR, Johns Hopkins School of Medicine, Baltimore, MD, USA.
  • Rodrigues EDS; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Antonescu C; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Doheny KF; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Lupski JR; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Valle D; Center for Inherited Disease Research - CIDR, Johns Hopkins School of Medicine, Baltimore, MD, USA.
  • Hamosh A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Sobreira N; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Orphanet J Rare Dis ; 16(1): 365, 2021 08 18.
Article em En | MEDLINE | ID: mdl-34407837
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genômica / Bases de Dados Genéticas Limite: Humans Idioma: En Revista: Orphanet J Rare Dis Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genômica / Bases de Dados Genéticas Limite: Humans Idioma: En Revista: Orphanet J Rare Dis Ano de publicação: 2021 Tipo de documento: Article