Your browser doesn't support javascript.
loading
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.
Lakhani, Shenela; Doan, Ryan; Almureikhi, Mariam; Partlow, Jennifer N; Al Saffar, Muna; Elsaid, Mahmoud F; Alaaraj, Nada; James Barkovich, A; Walsh, Christopher A; Ben-Omran, Tawfeg.
Afiliação
  • Lakhani S; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar.
  • Doan R; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA.
  • Almureikhi M; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar.
  • Partlow JN; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
  • Al Saffar M; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, 02115, USA; Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates Univer
  • Elsaid MF; Section of Neurology, Department of Pediatrics, Hamad Medical Corporation, Qatar.
  • Alaaraj N; Section of Children Development and Rehabilitation, Department of Pediatrics, Hamad Medical Corporation, Qatar.
  • James Barkovich A; Pediatric Neuroradiology, Department of Neuroradiology, University of California, San Francisco, San Francisco, CA, 94143, USA.
  • Walsh CA; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA; Harvard M
  • Ben-Omran T; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar. Electronic address: tawben11@hotmail.com.
Eur J Med Genet ; 60(5): 245-249, 2017 May.
Article em En | MEDLINE | ID: mdl-28254648
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Encéfalo / Moléculas de Adesão Celular Neuronais / Mutação da Fase de Leitura Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male / Newborn Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Qatar
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Encéfalo / Moléculas de Adesão Celular Neuronais / Mutação da Fase de Leitura Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male / Newborn Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Qatar