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Showing results (141-150 of 150) with videos related to

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American Journal of Ophthalmology|December 14, 2020
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, et al.
American Journal of Human Genetics|February 14, 2012
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Kinga Bujakowska, Elise Orhan, et al.
The British Journal of Ophthalmology|July 30, 2024
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre studyAustin D Igelman, Elizabeth White, Alaa Tayyib, et al.
Human Mutation|March 3, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disordersChristina Zeitz, Christelle Michiels, Marion Neuillé, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophyKarolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Biomolecules|March 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated GenesRebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 21, 2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomicsMubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, et al.
Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Nature Genetics|January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Pageof 15

Showing results (141-150 of 150) with videos related to

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Pageof 15
You have reached the last page of results.This site can display upto 150 results.
American Journal of Ophthalmology|December 14, 2020
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, et al.
American Journal of Human Genetics|February 14, 2012
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessIsabelle Audo, Kinga Bujakowska, Elise Orhan, et al.
The British Journal of Ophthalmology|July 30, 2024
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre studyAustin D Igelman, Elizabeth White, Alaa Tayyib, et al.
Human Mutation|March 3, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disordersChristina Zeitz, Christelle Michiels, Marion Neuillé, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophyKarolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Biomolecules|March 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated GenesRebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 21, 2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomicsMubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, et al.
Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Nature Genetics|January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
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