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Expanding the genotypic spectrum of Perrault syndrome.
Demain, L A M; Urquhart, J E; O'Sullivan, J; Williams, S G; Bhaskar, S S; Jenkinson, E M; Lourenco, C M; Heiberg, A; Pearce, S H; Shalev, S A; Yue, W W; Mackinnon, S; Munro, K J; Newbury-Ecob, R; Becker, K; Kim, M J; O' Keefe, R T; Newman, W G.
Afiliación
  • Demain LA; Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.
  • Urquhart JE; Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.
  • O'Sullivan J; Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.
  • Williams SG; Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.
  • Bhaskar SS; Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.
  • Jenkinson EM; Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.
  • Lourenco CM; Clinics Hospital of Ribeirao Preto, University of São Paulo, São Paulo, Brazil.
  • Heiberg A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Pearce SH; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; and Endocrine Department, Newcastle upon Tyne Hospitals, Newcastle upon Tyne, UK.
  • Shalev SA; The Institute for Genetics, Ha'Emek Medical Centre, Afula, Israel.
  • Yue WW; Rapapport faculty of Medicine, Technion Haifa, Haifa, Israel.
  • Mackinnon S; Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
  • Munro KJ; Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
  • Newbury-Ecob R; School of Psychological Sciences, University of Manchester, Manchester, UK.
  • Becker K; Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
  • Kim MJ; Clinical Genetics, St Michaels Hospital, Bristol Genetics Laboratory Pathology Sciences, Southmead Hospital Bristol, Bristol, UK.
  • O' Keefe RT; Medical Genetics Center, Munich, Germany.
  • Newman WG; Department of Obstetrics and Gynecology, The Catholic University of Korea, Seoul, Korea.
Clin Genet ; 91(2): 302-312, 2017 02.
Article en En | MEDLINE | ID: mdl-26970254
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Helicasas / Disgenesia Gonadal 46 XX / Proteínas Mitocondriales / Endopeptidasa Clp / Proteína-2 Multifuncional Peroxisomal / Aminoacil-ARNt Sintetasas / Pérdida Auditiva Sensorineural Límite: Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Helicasas / Disgenesia Gonadal 46 XX / Proteínas Mitocondriales / Endopeptidasa Clp / Proteína-2 Multifuncional Peroxisomal / Aminoacil-ARNt Sintetasas / Pérdida Auditiva Sensorineural Límite: Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido