Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Marie Ruffier-Bourdet"'
Autor:
Marie Ruffier Bourdet
Publikováno v:
Pratiques en nutrition. 19:22-25
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af15f971b958cd37a2a534fd8c70a448
https://doi.org/10.1016/j.pranut.2022.12.006
https://doi.org/10.1016/j.pranut.2022.12.006
Autor:
Delphine Minot, Sophie Chancenotte, Paul Kuentz, Yvan Henrenger, Mélanie Archimbaud-Devilliers, Christel Thauvin-Robinet, Audrey Creppy, Aurore Curie, Ezzat Ghosn, Alice Masurel-Paulet, Marie Ruffier-Bourdet, Daphné Lehalle, Julien Thevenon, Nicole Philip, Marlène Bonnet, Frédéric Huet, Claire Redin, Laurence Faivre, Jean-Louis Mandel, Amélie Piton, Gaëlle Blanchard, Odile Perret
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. 〈10.1002/ajmg.a.37765〉
American Journal of Medical Genetics Part A, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. 〈10.1002/ajmg.a.37765〉
American Journal of Medical Genetics Part A, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic micro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d693fe8769b15989697fc7ea973436
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01680171
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01680171
Autor:
Sophie Chancenotte, Vincent Desportes, Marlène Bonnet, Salima El Chehadeh, Véronique Darmency-Stamboul, Fabienne Levy, Christel Thauvin-Robinet, Nicolas Lebrun, Jamel Chelly, Laurence Faivre, Hao Hu, Vera M. Kalscheuer, Alice Masurel-Paulet, Jean-Michel Pinoit, Julien Thevenon, Frédéric Huet, Marie Ruffier-Bourdet
Publikováno v:
American Journal of Medical Genetics Part A
Europe PubMed Central
Europe PubMed Central
In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. The ID was either isolated or associated with a mar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd299ef11276ec93437c4f3dd82de493
https://pubmed.ncbi.nlm.nih.gov/24357419
https://pubmed.ncbi.nlm.nih.gov/24357419
Publikováno v:
Spirale. :47
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e89ea415cd9b3ecad154bd444a874e81
https://doi.org/10.3917/spi.051.0047
https://doi.org/10.3917/spi.051.0047