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Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.
Antony, Dinu; Nampoory, Narayanan; Bacchelli, Chiara; Melhem, Motasem; Wu, Kaman; James, Chela T; Beales, Philip L; Hubank, Mike; Thomas, Daisy; Mashankar, Anant; Behbehani, Kazem; Schmidts, Miriam; Alsmadi, Osama.
Afiliação
  • Antony D; Genetics and Genomics Unit, Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait; Genome Research, Human Genetics Department, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences (RIMLS), Geert Grooteplein Zuid 10, 6525GA Nijmegen, The Netherlands. Electronic add
  • Nampoory N; Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait.
  • Bacchelli C; Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK.
  • Melhem M; Genetics and Genomics Unit, Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait.
  • Wu K; Genome Research, Human Genetics Department, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences (RIMLS), Geert Grooteplein Zuid 10, 6525GA Nijmegen, The Netherlands.
  • James CT; Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK.
  • Beales PL; Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK.
  • Hubank M; Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK.
  • Thomas D; Genetics and Genomics Unit, Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait.
  • Mashankar A; Diagnostic Imaging Center, Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait.
  • Behbehani K; Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait.
  • Schmidts M; Genome Research, Human Genetics Department, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences (RIMLS), Geert Grooteplein Zuid 10, 6525GA Nijmegen, The Netherlands; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstrasse 1, 79112 Fr
  • Alsmadi O; Genetics and Genomics Unit, Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait. Electronic address: oalsmadi@gmail.com.
Eur J Med Genet ; 60(12): 658-666, 2017 Dec.
Article em En | MEDLINE | ID: mdl-28870638
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Osso e Ossos / Displasia Ectodérmica / Síndrome de Ellis-Van Creveld / Proteínas / Mutação de Sentido Incorreto / Craniossinostoses / Ciliopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Osso e Ossos / Displasia Ectodérmica / Síndrome de Ellis-Van Creveld / Proteínas / Mutação de Sentido Incorreto / Craniossinostoses / Ciliopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article