Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Khadidja Guehlouz"'
Autor:
Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, Majida Charif, Estelle Colin, Céline Bris, Valérie Desquiret-Dumas, Dan Milea, Philippe Gohier, Vincent Procaccio, Dominique Bonneau, Johan T. den Dunnen, Guy Lenaers, Pascal Reynier, Marc Ferré
Publikováno v:
Scientific Data, Vol 8, Iss 1, Pp 1-9 (2021)
Measurement(s) sequence_variant • Phenotypic variability Technology Type(s) DNA sequencing • Ophthalmologist Factor Type(s) sequence variant • phenotype Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing t
Externí odkaz:
https://doaj.org/article/195296a2e17347d9a874041f568137b7
Autor:
Judith Kouassi Nzoughet, Khadidja Guehlouz, Stéphanie Leruez, Philippe Gohier, Cinzia Bocca, Jeanne Muller, Odile Blanchet, Dominique Bonneau, Gilles Simard, Dan Milea, Vincent Procaccio, Guy Lenaers, Juan M. Chao de la Barca, Pascal Reynier
Publikováno v:
Metabolites, Vol 10, Iss 2, p 49 (2020)
Glaucoma is an age related disease characterized by the progressive loss of retinal ganglion cells, which are the neurons that transduce the visual information from the retina to the brain. It is the leading cause of irreversible blindness worldwide.
Externí odkaz:
https://doaj.org/article/02a78fb57d544fff9e210b2415b08086
Autor:
Guy Lenaers, Pascal Reynier, Delphine Mirebeau-Prunier, Patrizia Amati-Bonneau, Johan T. den Dunnen, Philippe Gohier, Dan Milea, Marc Ferré, Khadidja Guehlouz, Benjamin Billiet, Valérie Desquiret-Dumas
Publikováno v:
Human Mutation: Variation, Informatics and Disease, 43(2), 128-142. WILEY
Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal dominant disorder characterized by optic atrophy associated with development
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9220a85f18fbdc2f5c587c0912dd0374
https://hdl.handle.net/1887/3256619
https://hdl.handle.net/1887/3256619
Autor:
Dan Milea, Khadidja Guehlouz, Patrizia Amati-Bonneau, Dominique Bonneau, Thomas Foulonneau, Céline Bris, Guy Lenaers, Johan T. den Dunnen, Philippe Gohier, Vincent Procaccio, Valérie Desquiret-Dumas, Pascal Reynier, Estelle Colin, Marc Ferré, Majida Charif
Publikováno v:
Scientific Data
Scientific Data, Vol 8, Iss 1, Pp 1-9 (2021)
Scientific Data, Vol 8, Iss 1, Pp 1-9 (2021)
Pathogenic variants of the aconitase 2 gene (ACO2) are responsible for a broad clinical spectrum involving optic nerve degeneration, ranging from isolated optic neuropathy with recessive or dominant inheritance, to complex neurodegenerative syndromes
Autor:
Khadidja Guehlouz, Philippe Gohier, D. Milea, Benjamin Billiet, Valérie Desquiret-Dumas, Delphine Mirebeau-Prunier, Marc Ferré, Pascal Reynier, Patrizia Amati-Bonneau, Guy Lenaers, Johan T. den Dunnen
Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal dominant disorder characterized by optic atrophy associated with development
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10f567fcc320dd66303447c2c0d58f8f
https://doi.org/10.22541/au.162499324.41147632/v1
https://doi.org/10.22541/au.162499324.41147632/v1