Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Meindert De Vries"'
Autor:
Bernd Wissinger, Thomy de Ravel de l'Argentière, Frans P.M. Cremers, Jim Bauwens, Bart P. Leroy, Riccardo Sangermano, Caroline Van Cauwenbergh, Julie De Zaeytijd, Ana Fakin, Sarah De Jaegere, Toon Rosseel, Mubeen Khan, Gavin Arno, Susanne Kohl, Andrew R. Webster, Meindert De Vries, Elfride De Baere, Rob W.J. Collin, Alejandro Garanto, Irina Balikova, Keren J. Carss, Thalia Van Laethem, Miriam Bauwens, Kim De Leeneer, Marnik Vuylsteke, Sarah Naessens, Yves Sznajer, Timothy J. Cherry, Françoise Sadler, Nicole Weisschuh
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 21, 1761-1771
Genetics in Medicine, Vol. 21, no.8, p. 1761-1771 (2019)
GENETICS IN MEDICINE
Genetics in Medicine, 21, 8, pp. 1761-1771
Genetics in Medicine, 21, 1761-1771
Genetics in Medicine, Vol. 21, no.8, p. 1761-1771 (2019)
GENETICS IN MEDICINE
Genetics in Medicine, 21, 8, pp. 1761-1771
PURPOSE: ABCA4-associated disease, a recessive retinal dystrophy, is hallmarked by a large proportion of patients with only one pathogenic ABCA4 variant, suggestive for missing heritability. METHODS: By locus-specific analysis of ABCA4, combined with
Autor:
John R. Heckenlively, Elfride De Baere, Nicole Weisschuh, Marie Burstedt, Meindert De Vries, Katarina Stingl, Saskia Biskup, Bernd Wissinger, Isabelle Meunier, Andrew R Green, Isabelle Audo, Kari Branham, Irina Golovleva, Bart P. Leroy, Elias I. Traboulsi, Susanne Kohl, Béatrice Bocquet
Publikováno v:
Human Mutation. 39:1366-1371
Biallelic PDE6C mutations are a known cause for rod monochromacy, better known as autosomal recessive achromatopsia (ACHM), and early-onset cone photoreceptor dysfunction. PDE6C encodes the catalytic α'-subunit of the cone photoreceptor phosphodiest
Publikováno v:
Strabismus. 20:43-43