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Ophthalmic Genetics|February 10, 2010
Uveitis in DiGeorge syndrome: a case of autoimmune ocular inflammation in a patient with deletion 22q11.2Chloe Gottlieb, Zhuqing Li, Gulbu Uzel, et al.Ophthalmic Genetics|February 10, 2010
Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W)Arif O Khan, Leen Abu Safieh, Fowzan S Alkuraya, et al.Ophthalmic Genetics|November 8, 2005
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutationBenjamin U Nwosu, Margarita Raygada, Ekaterini T Tsilou, et al.Ophthalmic Genetics|October 27, 2009
Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli populationSaleh Abu Asleh, Michal Lederman, Orly Weinstein, et al.Ophthalmic Genetics|October 27, 2009
Characterization of CTNS mutations in Arab patients with cystinosisMohammed A Aldahmesh, Amal Humeidan, Hamad A Almojalli, et al.Ophthalmic Genetics|November 28, 2009
Why do cone photoreceptors die in rod-specific forms of retinal degenerations?Robert K KoenekoopOphthalmic Genetics|August 15, 2017
On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindnessLaura Bryant, Olga Lozynska, Grace Han, et al.Ophthalmic Genetics|November 29, 2017
Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular featuresElke O Kreps, Isabelle Van Herzeele, Bert L CallewaertOphthalmic Genetics|November 28, 2017
Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathyYan Chen, Deb Colville, Francesco Ierino, et al.Ophthalmic Genetics|November 1, 2017
Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactionsPascal Escher, Olga Passarin, Francis L Munier, et al.Pageof 185