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Robert K Koenekoop

Showing results (31-40 of 122) with videos related to

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Translational Vision Science & Technology|June 19, 2019
Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal DystrophiesClaire S Barnes, Ronald A Schuchard, David G Birch, et al.
Investigative Ophthalmology & Visual Science|December 5, 2009
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosisSirichai Pasadhika, Gerald A Fishman, Edwin M Stone, et al.
American Journal of Ophthalmology|October 1, 2003
Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian familiesRobert K Koenekoop, Magali Loyer, Collette K Hand, et al.
Journal of Medical Genetics|May 1, 2014
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndromeSamer Khateb, Lina Zelinger, Liliana Mizrahi-Meissonnier, et al.
Vision Research|May 14, 2003
The photopic ERG luminance-response function (photopic hill): method of analysis and clinical applicationMarianne Rufiange, Justine Dassa, Olga Dembinska, et al.
Investigative Ophthalmology & Visual Science|February 14, 2017
The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani FamiliesVafa Keser, Ayesha Khan, Sorath Siddiqui, et al.
Investigative Ophthalmology & Visual Science|August 27, 2005
Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platformMd Nawajes A Mandal, John R Heckenlively, Tracy Burch, et al.
Genes|December 2, 2020
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis PigmentosaAnna-Sophia Kiang, Paul F Kenna, Marian M Humphries, et al.
Molecular Vision|May 5, 2004
Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effectsChandra L Tucker, Visvanathan Ramamurthy, Ana-Luisa Pina, et al.
Human Genetics|September 29, 2005
A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9pMyrto Papaioannou, Christina F Chakarova, De Quincy C Prescott, et al.
Pageof 13

Showing results (31-40 of 122) with videos related to

Sort By:
Pageof 13
Translational Vision Science & Technology|June 19, 2019
Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal DystrophiesClaire S Barnes, Ronald A Schuchard, David G Birch, et al.
Investigative Ophthalmology & Visual Science|December 5, 2009
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosisSirichai Pasadhika, Gerald A Fishman, Edwin M Stone, et al.
American Journal of Ophthalmology|October 1, 2003
Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian familiesRobert K Koenekoop, Magali Loyer, Collette K Hand, et al.
Journal of Medical Genetics|May 1, 2014
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndromeSamer Khateb, Lina Zelinger, Liliana Mizrahi-Meissonnier, et al.
Vision Research|May 14, 2003
The photopic ERG luminance-response function (photopic hill): method of analysis and clinical applicationMarianne Rufiange, Justine Dassa, Olga Dembinska, et al.
Investigative Ophthalmology & Visual Science|February 14, 2017
The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani FamiliesVafa Keser, Ayesha Khan, Sorath Siddiqui, et al.
Investigative Ophthalmology & Visual Science|August 27, 2005
Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platformMd Nawajes A Mandal, John R Heckenlively, Tracy Burch, et al.
Genes|December 2, 2020
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis PigmentosaAnna-Sophia Kiang, Paul F Kenna, Marian M Humphries, et al.
Molecular Vision|May 5, 2004
Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effectsChandra L Tucker, Visvanathan Ramamurthy, Ana-Luisa Pina, et al.
Human Genetics|September 29, 2005
A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9pMyrto Papaioannou, Christina F Chakarova, De Quincy C Prescott, et al.
Pageof 13