Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Hérald, Emilie"'
Autor:
Manes, Gaël, Mamouni, Sonia, Hérald, Emilie, Richard, Anne-Claire, Sénéchal, Audrey, Aouad, Karim, Bocquet, Béatrice, Meunier, Isabelle, Hamel, Christian P.
Publikováno v:
Molecular Vision
Purpose Sixteen different mutations in the guanylate cyclase activator 1A gene (GUCA1A), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone–rod dystrophy (adCORD), macular dystrophy (adMD), and in an isolated p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4a90af3c6d637ecada92593125b5ea84
http://europepmc.org/articles/PMC5389339
http://europepmc.org/articles/PMC5389339
Autor:
Hébrard, Maxime, Bocquet, Béatrice, Meunier, Isabelle, Coustes-Chazalette, Delphine, Hérald, Emilie, Sénéchal, Audrey, Bolland Augé, Anne, Zelenika, Diana, Manès, Gaël, Hamel, Christian P
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2011, ⟨10.1038/ejhg.2011.133⟩
European Journal of Human Genetics, Nature Publishing Group, 2011, ⟨10.1038/ejhg.2011.133⟩
International audience; Among inherited retinal dystrophies, autosomal recessive retinitis pigmentosa (arRP) is the most genetically heterogenous condition with 32 genes currently known that account for ~60 % of patients. Molecular diagnosis thus req
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______212::c4933163b25f259ecc03b9ebb4f4f3c6
https://hal.archives-ouvertes.fr/hal-00663396
https://hal.archives-ouvertes.fr/hal-00663396
Autor:
Hebrard M; INSERM U 1051, Institute for Neurosciences of Montpellier, 80 rue Augustin Fliche, Montpellier Cedex 5, France., Manes G, Bocquet B, Meunier I, Coustes-Chazalette D, Hérald E, Sénéchal A, Bolland-Augé A, Zelenika D, Hamel CP
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Dec; Vol. 19 (12), pp. 1256-63. Date of Electronic Publication: 2011 Jul 27.