Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sabrina Mechaussier"'
Autor:
Nadia Bahi-Buisson, Christel Condroyer, Isabelle Perrault, Alexandra Mouallem-Beziere, Olivier Pelle, José-Alain Sahel, Josseline Kaplan, Laila Jeddawi, Isabelle Audo, Michel Polak, Jean-Louis Bacquet, Christina Zeitz, Nathalie Boddaert, Olivia Zambrowski, Basamat Almoallem, Jean-Michel Rozet, Jo Van Dorpe, Kristof Van Schil, Sabrina Mechaussier, Mara Cavallin, Alfredo Dueñas Rey, Elfride De Baere
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.859-871. ⟨10.1016/j.ajhg.2020.04.018⟩
AMERICAN JOURNAL OF HUMAN GENETICS
The American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.859-871. ⟨10.1016/j.ajhg.2020.04.018⟩
AMERICAN JOURNAL OF HUMAN GENETICS
The American Journal of Human Genetics
Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d0b819b12ffbaa650637b36d8600292
https://hal.archives-ouvertes.fr/hal-03490801
https://hal.archives-ouvertes.fr/hal-03490801
Autor:
Sabrina, Mechaussier, Sandrine, Marlin, Josseline, Kaplan, Jean-Michel, Rozet, Isabelle, Perrault
Publikováno v:
Advances in experimental medicine and biology. 1185
The specific association of Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (LCA-like) with sensorineural hearing loss (SHL) is uncommon. Recently, we ascribed some of these distinctive associations to dominant and de novo mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::97db685d9ecf14df14728449cccd2a4c
https://pubmed.ncbi.nlm.nih.gov/31884617
https://pubmed.ncbi.nlm.nih.gov/31884617
Akademický článek
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Publikováno v:
Retinal Degenerative Diseases ISBN: 9783030273774
The specific association of Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (LCA-like) with sensorineural hearing loss (SHL) is uncommon. Recently, we ascribed some of these distinctive associations to dominant and de novo mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9106f8a73b2973d83d965e4b515772eb
https://doi.org/10.1007/978-3-030-27378-1_38
https://doi.org/10.1007/978-3-030-27378-1_38