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P Leroy

Showing results (371-380 of 438) with videos related to

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Investigative Ophthalmology & Visual Science|January 1, 2016
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GenePanagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, et al.
American Journal of Ophthalmology|October 17, 2022
Outcome of Cataract Surgery in Patients With Retinitis PigmentosaXuan-Thanh-An Nguyen, Alberta A H J Thiadens, Marta Fiocco, et al.
Progress in Retinal and Eye Research|December 29, 2024
Syndromic retinitis pigmentosaJessica S Karuntu, Hind Almushattat, Xuan-Thanh-An Nguyen, et al.
American Journal of Human Genetics|January 17, 2003
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationElfride De Baere, Diane Beysen, Christine Oley, et al.
American Journal of Human Genetics|January 25, 2024
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunctionMiriam Bauwens, Elifnaz Celik, Dinah Zur, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|July 14, 2004
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutationsSharola Dharmaraj, Bart P Leroy, Melanie M Sohocki, et al.
Ophthalmology|March 19, 2013
Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunctionSusanne Roosing, L Ingeborgh van den Born, Carel B Hoyng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
Ophthalmology. Retina|December 17, 2023
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked RetinoschisisJonathan Hensman, Leo C Hahn, Mary J van Schooneveld, et al.
American Journal of Ophthalmology|December 10, 2022
Safety of Lenadogene Nolparvovec Gene Therapy Over 5 Years in 189 Patients With Leber Hereditary Optic NeuropathyCatherine Vignal-Clermont, Patrick Yu-Wai-Man, Nancy J Newman, et al.
Pageof 44

Showing results (371-380 of 438) with videos related to

Sort By:
Pageof 44
Investigative Ophthalmology & Visual Science|January 1, 2016
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GenePanagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, et al.
American Journal of Ophthalmology|October 17, 2022
Outcome of Cataract Surgery in Patients With Retinitis PigmentosaXuan-Thanh-An Nguyen, Alberta A H J Thiadens, Marta Fiocco, et al.
Progress in Retinal and Eye Research|December 29, 2024
Syndromic retinitis pigmentosaJessica S Karuntu, Hind Almushattat, Xuan-Thanh-An Nguyen, et al.
American Journal of Human Genetics|January 17, 2003
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationElfride De Baere, Diane Beysen, Christine Oley, et al.
American Journal of Human Genetics|January 25, 2024
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunctionMiriam Bauwens, Elifnaz Celik, Dinah Zur, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|July 14, 2004
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutationsSharola Dharmaraj, Bart P Leroy, Melanie M Sohocki, et al.
Ophthalmology|March 19, 2013
Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunctionSusanne Roosing, L Ingeborgh van den Born, Carel B Hoyng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
Ophthalmology. Retina|December 17, 2023
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked RetinoschisisJonathan Hensman, Leo C Hahn, Mary J van Schooneveld, et al.
American Journal of Ophthalmology|December 10, 2022
Safety of Lenadogene Nolparvovec Gene Therapy Over 5 Years in 189 Patients With Leber Hereditary Optic NeuropathyCatherine Vignal-Clermont, Patrick Yu-Wai-Man, Nancy J Newman, et al.
Pageof 44