Your browser doesn't support javascript.
loading
Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.
Thompson, Wayne; Carey, Patrick Z; Donald, Tyhiesia; Nelson, Beverly; Bhoj, Elizabeth J; Li, Dong; Hakonarson, Hakon; Ramirez, Maricela; Elsea, Sarah H; Smith, Janice L; Carey, John C; Sobering, Andrew K.
Afiliação
  • Thompson W; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.
  • Carey PZ; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.
  • Donald T; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada.
  • Nelson B; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada.
  • Bhoj EJ; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada.
  • Li D; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada.
  • Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Ramirez M; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Elsea SH; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Smith JL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Carey JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Sobering AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Mol Genet Genomic Med ; 8(8): e1318, 2020 08.
Article em En | MEDLINE | ID: mdl-32511891
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Síndrome de Cornélia de Lange Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Granada
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Síndrome de Cornélia de Lange Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Granada