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Martin McKibbin

Showing results (91-100 of 106) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, 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.
American Journal of Human Genetics|September 13, 2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaKamron Khan, Adam Rudkin, David A Parry, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationRobert K Koenekoop, Hui Wang, Jacek Majewski, et al.
Nature Communications|April 11, 2024
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defectsRobert Atkinson, Maria Georgiou, Chunbo Yang, et al.
Human Molecular Genetics|February 8, 2017
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertilityNicola Bedoni, Lonneke Haer-Wigman, Veronika Vaclavik, et al.
JAMA Ophthalmology|June 1, 2018
Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular DegenerationLaura Lorés-Motta, Moeen Riaz, Michelle Grunin, et al.
Nature Genetics|June 5, 2007
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Moin D Mohamed, et al.
Nature Communications|October 14, 2018
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosaAdriana Buskin, Lili Zhu, Valeria Chichagova, et al.
Ophthalmology. Retina|March 22, 2022
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D GeneLeo C Hahn, Michalis Georgiou, Hind Almushattat, et al.
Pageof 11

Showing results (91-100 of 106) with videos related to

Sort By:
Pageof 11
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, 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.
American Journal of Human Genetics|September 13, 2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaKamron Khan, Adam Rudkin, David A Parry, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationRobert K Koenekoop, Hui Wang, Jacek Majewski, et al.
Nature Communications|April 11, 2024
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defectsRobert Atkinson, Maria Georgiou, Chunbo Yang, et al.
Human Molecular Genetics|February 8, 2017
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertilityNicola Bedoni, Lonneke Haer-Wigman, Veronika Vaclavik, et al.
JAMA Ophthalmology|June 1, 2018
Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular DegenerationLaura Lorés-Motta, Moeen Riaz, Michelle Grunin, et al.
Nature Genetics|June 5, 2007
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Moin D Mohamed, et al.
Nature Communications|October 14, 2018
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosaAdriana Buskin, Lili Zhu, Valeria Chichagova, et al.
Ophthalmology. Retina|March 22, 2022
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D GeneLeo C Hahn, Michalis Georgiou, Hind Almushattat, et al.
Pageof 11