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Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family.
Hussain, Hafiz Muhammad Jafar; Murtaza, Ghulam; Jiang, Xiaohua; Khan, Ranjha; Khan, Manan; Kakakhel, Mian Basit Shah; Khan, Teka; Wahab, Fazal; Zhang, Huan; Zhang, Yuanwei; Khan, Muhammad Bilal; Ahmed, Parvez; Ma, Hui; Xu, Zhipeng.
Afiliação
  • Hussain HMJ; The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Scie
  • Murtaza G; The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Scie
  • Jiang X; The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Scie
  • Khan R; The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Scie
  • Khan M; The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Scie
  • Kakakhel MBS; The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Scie
  • Khan T; The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Scie
  • Wahab F; The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Scie
  • Zhang H; The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Scie
  • Zhang Y; The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Scie
  • Khan MB; Armed Forces Institute of Pathology (AFIP), Combined Military Hospital (CMH), Rawalpindi, Pakistan.
  • Ahmed P; Armed Forces Institute of Pathology (AFIP), Combined Military Hospital (CMH), Rawalpindi, Pakistan.
  • Ma H; The First Affiliated Hospital of USTC, Division of Molecular Medicine, Hefei National Laboratory for Physical Sciences at Microscale, USTC-SJH Joint Center for Human Reproduction and Genetics, The CAS Key Laboratory of Innate Immunity and Chronic Diseases, School of Life Sciences, University of Scie
  • Xu Z; Department of Andrology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China.
Horm Res Paediatr ; 91(1): 9-16, 2019.
Article em En | MEDLINE | ID: mdl-30947225
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Família / Síndrome de Kallmann / Receptores LHRH / Códon sem Sentido / Exoma / Infertilidade Feminina / Infertilidade Masculina Limite: Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Família / Síndrome de Kallmann / Receptores LHRH / Códon sem Sentido / Exoma / Infertilidade Feminina / Infertilidade Masculina Limite: Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article