Your browser doesn't support javascript.
loading
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.
Caglayan, Ahmet Okay; Tuysuz, Beyhan; Gül, Ece; Alkaya, Dilek Uludag; Yalcinkaya, Cengiz; Gleeson, Joseph G; Bilguvar, Kaya; Gunel, Murat.
Afiliação
  • Caglayan AO; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, 06520-8082, USA. ahmetokay.caglayan@deu.edu.tr.
  • Tuysuz B; Department of Pediatrics, Division of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey. beyhan@istanbul.edu.tr.
  • Gül E; Department of Pediatrics, Division of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Alkaya DU; Department of Pediatrics, Division of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Yalcinkaya C; Department of Neurology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, 92093, USA.
  • Bilguvar K; Rady Children's Institute for Genomic Medicine, San Diego, CA, 92025, USA.
  • Gunel M; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, 06520-8082, USA.
J Hum Genet ; 67(9): 553-556, 2022 Sep.
Article em En | MEDLINE | ID: mdl-35338243
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Deficiência Intelectual Limite: Humans Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Deficiência Intelectual Limite: Humans Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos