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1دورية أكاديمية
المؤلفون: Zied Riahi, Crystel Bonnet, Rim Zainine, Saida Lahbib, Yosra Bouyacoub, Rym Bechraoui, Jihène Marrakchi, Jean-Pierre Hardelin, Malek Louha, Leila Largueche, Salim Ben Yahia, Moncef Kheirallah, Leila Elmatri, Ghazi Besbes, Sonia Abdelhak, Christine Petit
المصدر: PLoS ONE, Vol 10, Iss 3, p e0120584 (2015)
وصف الملف: electronic resource
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المؤلفون: Sonia Abdelhak, Zied Riahi, L. Largueche, Rim Zainine, Moncef Kheirallah, Leila Elmatri, Christine Petit, Ghazi Besbes, Saida Lahbib, Yosra Bouyacoub, J. Marrakchi, Crystel Bonnet, Jean-Pierre Hardelin, Salim Ben Yahia, Rym Bechraoui, Malek Louha
المساهمون: Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), University of Tunis El Manar, Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Otorhinolaryngology Diseases, Hôpital La Rabta [Tunis], Université de Monastir - University of Monastir (UM), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de recherche d'oculogénétique, Service B, Institut Hedi Rais d'ophtalmologie, Department of Ophthalmology, CHU Fattouma Bourguiba [Monastir] (HFB), This work was supported by the Tunisian Ministry of Public Health, the Ministry of Higher Education and Scientific Research (LR11IPT05), the E.C. Grant agreement N° 295097 for FP7 project GM-NCD-Inco (www.genomedika.org), ZR is recipient of a Mobidoc Fellowship under the Programme d’Appui au Système de recherche et d’Innovation (PASRI-Europe Aid) and BNP Paribas foundation., European Project: 295097,EC:FP7:INCO,FP7-INCO-2011-6,GM_NCD_IN_CO(2011), Université de Tunis - El Manar II, Université de Tunis El Manar (UTM), Chaire Génétique et physiologie cellulaire, Oficjalska, Danuta, Reinforcing IPT capacities in Genomic Medicine, Non Communicable Diseases Investigation and international cooperation - GM_NCD_IN_CO - - EC:FP7:INCO2011-12-01 - 2014-11-30 - 295097 - VALID
المصدر: PLoS ONE
PLoS ONE, 2015, 10 (3), pp.e0120584. ⟨10.1371/journal.pone.0120584⟩
PLoS ONE, Public Library of Science, 2015, 10 (3), pp.e0120584. ⟨10.1371/journal.pone.0120584⟩
PLoS ONE, Vol 10, Iss 3, p e0120584 (2015)مصطلحات موضوعية: Male, Tunisia, Genotype, Usher syndrome, Nonsense mutation, lcsh:Medicine, Deafness, Myosins, Biology, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Connexins, Retina, Frameshift mutation, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Retinitis pigmentosa, medicine, otorhinolaryngologic diseases, Humans, Missense mutation, Exome, Family, lcsh:Science, Exome sequencing, Genetics, Multidisciplinary, lcsh:R, High-Throughput Nucleotide Sequencing, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, eye diseases, Pedigree, 3. Good health, Connexin 26, Phenotype, Mutation, Anticipation (genetics), [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, lcsh:Q, Genome-Wide Association Study, Research Article
وصف الملف: application/pdf