Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jean Muller"'
Autor:
Haluk Topaloglu, Mireille Claustres, Sacha Ferdinandusse, Bruno Leheup, Elif Acar Arslan, Christine Tranchant, Michel Koenig, Claire Guissart, Ruth Gershoni-Barush, Lise Larrieu, Jean Muller, Ibrahim Oncel, Nathalie Drouot, Mathieu Anheim
Publikováno v:
European journal of human genetics, 24(8), 1154-1159. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2015, 24 (8), pp.1154-1159. ⟨10.1038/ejhg.2015.259⟩
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2015, 24 (8), pp.1154-1159. ⟨10.1038/ejhg.2015.259⟩
International audience; Ataxia is a symptom that is often associated with syndromic inherited diseases. We previously reported the linkage of a novel syndrome, ataxia with blindness and deafness (SCAR3/SCABD, OMIM# 271250), to chromosome 6p21-p23 by
Autor:
Virginie Laurier, Corinne Stoetzel, Patricia Amati-Bonneau, Nabiha Salem, Dominique Bonneau, Jean Muller, Olivier Poch, Hélène Dollfus, Nadine Jalkh, André Mégarbané, Jean-Louis Mandel, Eliane Chouery, Jean-Marc Danse, Christelle Thibault, Serge Licaire, Sandra Corbani
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2006, 14 (11), pp.1195-203. ⟨10.1038/sj.ejhg.5201688⟩
European Journal of Human Genetics, Nature Publishing Group, 2006, 14 (11), pp.1195-203. ⟨10.1038/sj.ejhg.5201688⟩
International audience; The extensive genetic heterogeneity of Bardet-Biedl syndrome (BBS) is documented by the identification, by classical linkage analysis complemented recently by comparative genomic approaches, of nine genes (BBS1-9) that account