Showing results (271-280 of 1,842) with videos related to
Sort By:
Pageof 185
Ophthalmic Genetics|December 7, 2006
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutationBenjamin H Ticho, Clair Hilchie-Schmidt, Robert T Egel, et al.Ophthalmic Genetics|December 7, 2006
Mutation screen of the cone-specific gene, CLUL1, in 376 patients with age-related macular degenerationGwen M Sturgill, Gayle J T Pauer, Elisa Bala, et al.Ophthalmic Genetics|December 7, 2006
A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangiomaAnna S Kitzmann, Jose S Pulido, Matthew J Ferber, et al.Ophthalmic Genetics|October 20, 2006
Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicismMehryar Taban, Andreas Marcotty, Elias I TraboulsiOphthalmic Genetics|June 23, 2010
CDKN1C (p57KIP2) mRNA expression in human retinoblastomasJagadeesan Madhavan, Kandalam Mallikarjuna, Khetan Vikas, et al.Ophthalmic Genetics|June 23, 2010
Familial case of Blau syndrome associated with a CARD15/NOD2 mutationCristina Villanueva-Mendoza, Lourdes Arellanes-García, Victoria Cubas-Lorenzo, et al.Ophthalmic Genetics|June 24, 2010
Long-term 12 year follow-up of X-linked congenital retinoschisisSten Kjellström, Camasamudram Vijayasarathy, Vesna Ponjavic, et al.Ophthalmic Genetics|May 11, 2010
Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmusJohn H Fingert, Ben Roos, Mari E Eyestone, et al.Ophthalmic Genetics|January 28, 2009
Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS geneCristina Villanueva-Mendoza, Oswaldo artínez-Guzmán, David Rivera-Parra, et al.Ophthalmic Genetics|February 1, 2013
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North AmericaLance Doucette, Jane Green, Coleman Black, et al.Pageof 185