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American Journal of Medical Genetics. Part A|January 22, 2004
Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancyPaolo Moretti, Maria Blazo, Leonardo Garcia, et al.Molecular Vision|April 10, 2007
Identification of three novel NHS mutations in families with Nance-Horan syndromeKristen M Huang, Junhua Wu, Simon P Brooks, et al.Ophthalmic Genetics|July 17, 2004
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in EcuadorStacey M Curry, Aline G Daou, Pia Hermanns, et al.American Journal of Medical Genetics. Part A|April 6, 2011
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunctionSara Andrabi, Mir Reza Bekheirnia, Patricia Robbins-Furman, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|January 14, 2003
Visual loss in patients with cytomegalovirus retinitis and acquired immunodeficiency syndrome before widespread availability of highly active antiretroviral therapyJanet T Holbrook, Douglas A Jabs, David V Weinberg, et al.American Journal of Human Genetics|February 5, 2003
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2José L Badano, Stephen J Ansley, Carmen C Leitch, et al.Human Genetics|December 15, 2010
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosisWojciech Wiszniewski, Richard Alan Lewis, David W Stockton, et al.BMC Medical Genetics|August 17, 2013
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiologyWilliam J Craigen, Brett H Graham, Lee-Jun Wong, et al.Journal of Acquired Immune Deficiency Syndromes (1999)|January 26, 2010
Mitochondrial haplogroups are associated with risk of neuroretinal disorder in HIV-positive patientsSher L Hendrickson, Douglas A Jabs, Mark Van Natta, et al.Human Molecular Genetics|August 17, 2005
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophiesWojciech Wiszniewski, Charles M Zaremba, Alexander N Yatsenko, et al.Pageof 6