Zobrazeno 1 - 8
of 8
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
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Autor:
Dodd, Daniel O., Mechaussier, Sabrina, Yeyati, Patricia L., McPhie, Fraser, Anderson, Jacob R., Khoo, Chen Jing, Shoemark, Amelia, Gupta, Deepesh K., Attard, Thomas, Zariwala, Maimoona A., Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Fassad, Mahmoud R., Parry, David A., Tennant, Peter A., Meynert, Alison, Wheway, Gabrielle, Fares-Taie, Lucas
Publikováno v:
Science. 4/26/2024, Vol. 384 Issue 6694, p404-404. 1p. 1 Diagram.
Publikováno v:
Frontiers in Neuroscience; 2023, p1-13, 13p
Publikováno v:
Genomics & Genetics Weekly; 2024, p1738-1738, 1p
Autor:
Catherine Bowes Rickman, Christian Grimm, Robert E. Anderson, John D. Ash, Matthew M. LaVail, Joe G. Hollyfield
This book contains the proceedings of the XVIII International Symposium on Retinal Degeneration (RD2018). A majority of those who spoke and presented posters at the meeting contributed to this volume. The blinding diseases of inherited retinal degene