Výsledky vyhledávání - "Stephen Vlaeminck"

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Autor: Richard J.H. Smith, Alessandra Murgia, István Sziklai, Pierangela Castorina, Małgorzata Mueller-Malesińska, Nele Hilgert, Ewa Nowakowska, Graça Fialho, Alessandro Martini, Erdmute Kunstmann, Ignacio del Castillo, Lut Van Laer, Felipe Moreno, Doris Nekahm-Heis, Cyril Goizet, Carla Nishimura, Guy Van Camp, Elena Mennucci, Agata Skórka, Stephen Vlaeminck, Paul Van de Heyning, Mustafa Tekin, Michael B. Petersen, Ashley Q. Thorburn, Virginia W. Norris, Petr Janoušek, Anne Françoise Roux, Jerzy Bal, Nele Dieltjens, Guenaëlle Lancelot, Delphine Feldmann, Tímea Tóth, Pavel Seeman, Andreas R. Janecke, Eva Orzan, Jaroslaw Waligora, Karianne Hostmark, Matthew J. Huentelman, Klemens Frei, Ingeborg Dhooge, Catherine Blanchet, Paul J. Govaerts, Vasiliki Vivian Iliadou, Erik Fransen, Umberto Ambrosetti, Karen Grønskov, Agnieszka Pollak, Kathleen S. Arnos, Françoise Denoyelle, Paola Primignani, Armagan Incesulu, Ouyang Xiaomei, Rafał Płoski, Sandrine Marlin, Arti Pandya, Xue Zhong Liu, Helena Caria

Publikováno v: European journal of immunogenetics

Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa90443768531eb313131f5514fb942
https://doi.org/10.1038/ejhg.2008.201

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