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Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
Riahi, Zied; Bonnet, Crystel; Zainine, Rim; Lahbib, Saida; Bouyacoub, Yosra; Bechraoui, Rym; Marrakchi, Jihène; Hardelin, Jean-Pierre; Louha, Malek; Largueche, Leila; Ben Yahia, Salim; Kheirallah, Moncef; Elmatri, Leila; Besbes, Ghazi; Abdelhak, Sonia; Petit, Christine.
Afiliação
  • Riahi Z; Institut Pasteur de Tunis, LR11IPT05, Biomedical Genomics and Oncogenetics Laboratory, 1002, Tunis, Tunisia; Faculté des Sciences de Tunis, Université de Tunis El Manar, 2092 El Manar I Tunis, Tunis, Tunisia.
  • Bonnet C; Institut de la Vision, INSERM UMRS 1120, UPMC- Paris 6, Paris, France.
  • Zainine R; La Rabta Hospital, Otorhinolaryngology Diseases, Tunis, Tunisia.
  • Lahbib S; Institut Pasteur de Tunis, LR11IPT05, Biomedical Genomics and Oncogenetics Laboratory, 1002, Tunis, Tunisia.
  • Bouyacoub Y; Institut Pasteur de Tunis, LR11IPT05, Biomedical Genomics and Oncogenetics Laboratory, 1002, Tunis, Tunisia; Université de Monastir, Institut Supérieur de Biotechnologie, Monastir, Tunisia.
  • Bechraoui R; La Rabta Hospital, Otorhinolaryngology Diseases, Tunis, Tunisia.
  • Marrakchi J; La Rabta Hospital, Otorhinolaryngology Diseases, Tunis, Tunisia.
  • Hardelin JP; Institut Pasteur, Unité de Génétique et Physiologie de l'Audition, Paris, France.
  • Louha M; Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital Armand Trousseau, APHP, Paris, France.
  • Largueche L; Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia.
  • Ben Yahia S; Universite de Monastir, Faculty of Medicine, Fattouma Bourguiba University Hospital, Department of Ophthalmology, 5000, Monastir, Tunisia.
  • Kheirallah M; Universite de Monastir, Faculty of Medicine, Fattouma Bourguiba University Hospital, Department of Ophthalmology, 5000, Monastir, Tunisia.
  • Elmatri L; Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia.
  • Besbes G; La Rabta Hospital, Otorhinolaryngology Diseases, Tunis, Tunisia.
  • Abdelhak S; Institut Pasteur de Tunis, LR11IPT05, Biomedical Genomics and Oncogenetics Laboratory, 1002, Tunis, Tunisia.
  • Petit C; Institut de la Vision, INSERM UMRS 1120, UPMC- Paris 6, Paris, France; Institut Pasteur, Unité de Génétique et Physiologie de l'Audition, Paris, France; Collège de France, Paris, France.
PLoS One ; 10(3): e0120584, 2015.
Article em En | MEDLINE | ID: mdl-25798947
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Surdez / Estudo de Associação Genômica Ampla / Sequenciamento de Nucleotídeos em Larga Escala / Exoma / Mutação Tipo de estudo: Prognostic_studies / Screening_studies Limite: Female / Humans / Male País/Região como assunto: Africa Idioma: En Ano de publicação: 2015 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Surdez / Estudo de Associação Genômica Ampla / Sequenciamento de Nucleotídeos em Larga Escala / Exoma / Mutação Tipo de estudo: Prognostic_studies / Screening_studies Limite: Female / Humans / Male País/Região como assunto: Africa Idioma: En Ano de publicação: 2015 Tipo de documento: Article