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Gavin Arno

Showing results (111-120 of 185) with videos related to

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Ophthalmology|November 2, 2020
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern DystrophyAlexander Tanner, Hwei Wuen Chan, Jose S Pulido, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophyRenae Elaine Bertrand, Jun Wang, Kaitlyn H Xiong, et al.
European Journal of Human Genetics : EJHG|February 3, 2018
A clinical and molecular characterisation of CRB1-associated maculopathyKamron N Khan, Anthony Robson, Omar A R Mahroo, et al.
Investigative Ophthalmology & Visual Science|May 3, 2021
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular FeatureNeringa Jurkute, Priya D Shanmugarajah, Marios Hadjivassiliou, et al.
Investigative Ophthalmology & Visual Science|January 24, 2024
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, et al.
Investigative Ophthalmology & Visual Science|March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140Sarah Hull, Nicholas Owen, Farrah Islam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2022
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamilyTalya Millo, Antonio Rivera, Alexey Obolensky, et al.
Annals of Neurology|July 13, 2019
SSBP1 mutations in dominant optic atrophy with variable retinal degenerationNeringa Jurkute, Costin Leu, Hans-Martin Pogoda, et al.
Journal of Medical Genetics|January 20, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, et al.
Ophthalmology. Retina|September 15, 2023
Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American CohortMalena Daich Varela, Rene Moya, Rebeca Azevedo Souza Amaral, et al.
Pageof 19

Showing results (111-120 of 185) with videos related to

Sort By:
Pageof 19
Ophthalmology|November 2, 2020
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern DystrophyAlexander Tanner, Hwei Wuen Chan, Jose S Pulido, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophyRenae Elaine Bertrand, Jun Wang, Kaitlyn H Xiong, et al.
European Journal of Human Genetics : EJHG|February 3, 2018
A clinical and molecular characterisation of CRB1-associated maculopathyKamron N Khan, Anthony Robson, Omar A R Mahroo, et al.
Investigative Ophthalmology & Visual Science|May 3, 2021
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular FeatureNeringa Jurkute, Priya D Shanmugarajah, Marios Hadjivassiliou, et al.
Investigative Ophthalmology & Visual Science|January 24, 2024
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, et al.
Investigative Ophthalmology & Visual Science|March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140Sarah Hull, Nicholas Owen, Farrah Islam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2022
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamilyTalya Millo, Antonio Rivera, Alexey Obolensky, et al.
Annals of Neurology|July 13, 2019
SSBP1 mutations in dominant optic atrophy with variable retinal degenerationNeringa Jurkute, Costin Leu, Hans-Martin Pogoda, et al.
Journal of Medical Genetics|January 20, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, et al.
Ophthalmology. Retina|September 15, 2023
Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American CohortMalena Daich Varela, Rene Moya, Rebeca Azevedo Souza Amaral, et al.
Pageof 19