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Ophthalmic Genetics|July 12, 2021
Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinismAlina V Dumitrescu, Johnny Tran, Wanda Pfeifer, et al.Ophthalmic Genetics|July 12, 2021
Expanding the phenotype of mucopolysaccharidosis type II retinopathyTanya Kowalski, Jonathan B Ruddle, Gerard de Jong, et al.Ophthalmic Genetics|May 24, 2022
AAMR syndrome in a 22-month-old and literature reviewMark A Oet, Venkatesh Brahma, James McGrath, et al.Ophthalmic Genetics|May 11, 2022
Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variantJ-S Bellingrath, M E McClements, M Shanks, et al.Ophthalmic Genetics|February 11, 1998
Alport syndrome. A review of the ocular manifestationsD J Colville, J SavigeOphthalmic Genetics|February 11, 1998
Two families with dyshidrotic ectodermal dysplasia associated with ingrowth of corneal vessels, limbal hair growth, and Bitôt-like conjunctival anomaliesN T Tijmes, M J Zaal, P T De Jong, et al.Ophthalmic Genetics|February 11, 1998
Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic casesM M van Genderen, J Schuil, F M MeireOphthalmic Genetics|November 15, 1997
A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophyC Bareil, C Hamel, B Arnaud, et al.Ophthalmic Genetics|October 21, 2003
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndromeLisa A Schimmenti, Glenda S Manligas, Paul A SievingOphthalmic Genetics|July 3, 2019
Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutationsArif O Khan, Amal M Al TeneijiPageof 185