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Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
Siddiqi, Saima; Siddiq, Saadat; Mansoor, Atika; Oostrik, Jaap; Ahmad, Nafees; Kazmi, Syed Ali Raza; Kremer, Hannie; Qamar, Raheel; Schraders, Margit.
Afiliação
  • Siddiqi S; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
  • Siddiq S; National Institute of Handicap, Islamabad, Pakistan.
  • Mansoor A; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
  • Oostrik J; 1] Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
  • Ahmad N; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
  • Kazmi SA; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
  • Kremer H; 1] Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands [4] Department of Human Genetics, Radboud University N
  • Qamar R; 1] COMSATS Institute of Information Technology, Islamabad, Pakistan [2] Al-Nafees Medical College and Hospital, Isra University, Islamabad, Pakistan.
  • Schraders M; 1] Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
J Hum Genet ; 58(12): 819-21, 2013 Dec.
Article em En | MEDLINE | ID: mdl-24172246
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Complexo III da Cadeia de Transporte de Elétrons / Polimorfismo de Nucleotídeo Único / Doenças Mitocondriais / Doenças do Cabelo / Perda Auditiva Neurossensorial / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male / Middle aged País como assunto: Asia Idioma: En Ano de publicação: 2013 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Complexo III da Cadeia de Transporte de Elétrons / Polimorfismo de Nucleotídeo Único / Doenças Mitocondriais / Doenças do Cabelo / Perda Auditiva Neurossensorial / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male / Middle aged País como assunto: Asia Idioma: En Ano de publicação: 2013 Tipo de documento: Article