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P Leroy

Showing results (411-420 of 438) with videos related to

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Retina (Philadelphia, Pa.)|April 18, 2020
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up StudyXuan-Thanh-An Nguyen, Mays Talib, Caroline van Cauwenbergh, et al.
Nature Genetics|December 23, 2015
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrityNicole T M Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller, et al.
Human Mutation|November 30, 2020
New variants and in silico analyses in GRK1 associated Oguchi diseaseJames A Poulter, Molly S C Gravett, Rachel L Taylor, et al.
Ophthalmology and Therapy|November 30, 2022
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 MutationValerio Carelli, Nancy J Newman, Patrick Yu-Wai-Man, et al.
American Journal of Human Genetics|November 10, 2009
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Susanne Kohl, Bart P Leroy, et al.
Nature Medicine|December 19, 2018
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defectArtur V Cideciyan, Samuel G Jacobson, Arlene V Drack, et al.
Investigative Ophthalmology & Visual Science|July 7, 2009
Genotyping microarray for CSNB-associated genesChristina Zeitz, Stephan Labs, Birgit Lorenz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsMiriam Bauwens, Alejandro Garanto, Riccardo Sangermano, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 13, 2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndromeAlejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, et al.
Ophthalmology|October 8, 2021
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 PatientsLeo C Hahn, Mary J van Schooneveld, Nieneke L Wesseling, et al.
Pageof 44

Showing results (411-420 of 438) with videos related to

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Pageof 44
Retina (Philadelphia, Pa.)|April 18, 2020
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up StudyXuan-Thanh-An Nguyen, Mays Talib, Caroline van Cauwenbergh, et al.
Nature Genetics|December 23, 2015
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrityNicole T M Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller, et al.
Human Mutation|November 30, 2020
New variants and in silico analyses in GRK1 associated Oguchi diseaseJames A Poulter, Molly S C Gravett, Rachel L Taylor, et al.
Ophthalmology and Therapy|November 30, 2022
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 MutationValerio Carelli, Nancy J Newman, Patrick Yu-Wai-Man, et al.
American Journal of Human Genetics|November 10, 2009
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Susanne Kohl, Bart P Leroy, et al.
Nature Medicine|December 19, 2018
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defectArtur V Cideciyan, Samuel G Jacobson, Arlene V Drack, et al.
Investigative Ophthalmology & Visual Science|July 7, 2009
Genotyping microarray for CSNB-associated genesChristina Zeitz, Stephan Labs, Birgit Lorenz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsMiriam Bauwens, Alejandro Garanto, Riccardo Sangermano, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 13, 2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndromeAlejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, et al.
Ophthalmology|October 8, 2021
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 PatientsLeo C Hahn, Mary J van Schooneveld, Nieneke L Wesseling, et al.
Pageof 44