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European Journal of Human Genetics : EJHG|September 10, 2015
Novel genetic causes for cerebral visual impairmentDaniëlle G M Bosch, F Nienke Boonstra, Nicole de Leeuw, et al.
Investigative Ophthalmology & Visual Science|November 19, 2014
The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseasesRamon A C van Huet, Clasien J Oomen, Astrid S Plomp, et al.
Molecular Vision|December 15, 2010
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarrayAlmudena Ávila-Fernández, Diego Cantalapiedra, Elena Aller, et al.
Investigative Ophthalmology & Visual Science|May 26, 2005
MPP5 recruits MPP4 to the CRB1 complex in photoreceptorsAlbena Kantardzhieva, Ilse Gosens, Svetlana Alexeeva, et al.
Molecular Vision|July 29, 2021
Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypesAnna M Tracewska, Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, et al.
Ophthalmology|August 20, 2023
Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and ProgressionCatherina H Z Li, Jeroen A A H Pas, Zelia Corradi, et al.
Ophthalmology|February 12, 2011
CLRN1 mutations cause nonsyndromic retinitis pigmentosaMuhammad Imran Khan, Ferry F J Kersten, Maleeha Azam, et al.
Molecular Vision|June 28, 2012
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani familiesMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.
Cell Death & Disease|February 19, 2025
Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoidsAvril Watson, Rachel Queen, Luis Ferrández-Peral, et al.
Human Mutation|August 21, 2007
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndromeValeska Frank, Anneke I den Hollander, Nadina Ortiz Brüchle, et al.
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