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Human Mutation|September 2, 2011
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod responseBernd Wissinger, Simone Schaich, Britta Baumann, et al.
JAMA Ophthalmology|October 15, 2020
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation TrialLaura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, et al.
American Journal of Human Genetics|October 10, 2007
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophyChristina F Chakarova, Myrto G Papaioannou, Hemant Khanna, et al.
American Journal of Human Genetics|September 6, 2001
CNGA3 mutations in hereditary cone photoreceptor disordersB Wissinger, D Gamer, H Jägle, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
Thrombosis and Haemostasis|August 8, 2017
Validation of the DAPT score in patients randomized to 6 or 12 months clopidogrel after predominantly second-generation drug-eluting stentsYukinori Harada, Jonathan Michel, Raphaela Lohaus, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, et al.
American Journal of Human Genetics|November 10, 2009
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Susanne Kohl, Bart P Leroy, et al.
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