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Gavin Arno

Showing results (171-180 of 185) 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.
Plos Genetics|August 30, 2018
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaLin Li, Xiaodong Jiao, Ilaria D'Atri, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disordersJames Liu, Yi He, Cara Lwin, et al.
Brain : a Journal of Neurology|May 12, 2024
Neuropathy target esterase activity defines phenotypes among PNPLA6 disordersJames Liu, Yi He, Cara Lwin, et al.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Nature Machine Intelligence|June 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2GeneNikolas Pontikos, William A Woof, Siying Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
American Journal of Human Genetics|March 14, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesMingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasisZoéline Mars, Andrea Zanetti, Karolina Kaminska, 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.
Pageof 19

Showing results (171-180 of 185) with videos related to

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Pageof 19
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.
Plos Genetics|August 30, 2018
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaLin Li, Xiaodong Jiao, Ilaria D'Atri, et al.
Biorxiv : the Preprint Server for Biology|June 19, 2023
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disordersJames Liu, Yi He, Cara Lwin, et al.
Brain : a Journal of Neurology|May 12, 2024
Neuropathy target esterase activity defines phenotypes among PNPLA6 disordersJames Liu, Yi He, Cara Lwin, et al.
American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.
Nature Machine Intelligence|June 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2GeneNikolas Pontikos, William A Woof, Siying Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
American Journal of Human Genetics|March 14, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesMingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene <i>DDX41</i> cause retinal dystrophy through dysregulation of retinal homeostasisZoéline Mars, Andrea Zanetti, Karolina Kaminska, 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.
Pageof 19