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Gavin Arno

Showing results (41-50 of 185) with videos related to

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Eye (London, England)|July 19, 2020
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophyRola Ba-Abbad, Anthony G Robson, Omar A Mahroo, et al.
European Journal of Human Genetics : EJHG|October 23, 2025
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis PigmentosaLeon Chang, James A Poulter, Andrew R Webster, et al.
Human Mutation|June 22, 2010
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patientsJose Antonio Aragon-Martin, Dana Ahnood, David G Charteris, et al.
Ophthalmic Genetics|October 18, 2017
A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataractVanita Berry, Nikolas Pontikos, Monica Albarca-Aguilera, et al.
Investigative Ophthalmology & Visual Science|February 19, 2025
Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated RetinopathyGilad Allon, Siying Lin, Anthony G Robson, et al.
Ophthalmic Genetics|November 20, 2018
Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degenerationShyamanga Borooah, Chloe M Stanton, Joseph Marsh, et al.
The British Journal of Ophthalmology|May 25, 2021
Novel disease-causing variant in <i>RDH12</i> presenting with autosomal dominant retinitis pigmentosaManickam Nick Muthiah, Angelos Kalitzeos, Kate Oprych, et al.
Ophthalmic Genetics|May 26, 2022
Variability of retinopathy consequent upon novel mutations in LAMA1Elena R Schiff, Nancy Aychoua, Savita Nutan, et al.
Molecular Genetics & Genomic Medicine|March 22, 2021
Panel-based genetic testing for inherited retinal disease screening 176 genesLeo H N Sheck, Simona D Esposti, Omar A Mahroo, et al.
Investigative Ophthalmology & Visual Science|June 21, 2023
An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK BiobankMark J Simcoe, Gavin Arno, Pirro G Hysi, et al.
Pageof 19

Showing results (41-50 of 185) with videos related to

Sort By:
Pageof 19
Eye (London, England)|July 19, 2020
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophyRola Ba-Abbad, Anthony G Robson, Omar A Mahroo, et al.
European Journal of Human Genetics : EJHG|October 23, 2025
RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis PigmentosaLeon Chang, James A Poulter, Andrew R Webster, et al.
Human Mutation|June 22, 2010
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patientsJose Antonio Aragon-Martin, Dana Ahnood, David G Charteris, et al.
Ophthalmic Genetics|October 18, 2017
A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataractVanita Berry, Nikolas Pontikos, Monica Albarca-Aguilera, et al.
Investigative Ophthalmology & Visual Science|February 19, 2025
Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated RetinopathyGilad Allon, Siying Lin, Anthony G Robson, et al.
Ophthalmic Genetics|November 20, 2018
Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degenerationShyamanga Borooah, Chloe M Stanton, Joseph Marsh, et al.
The British Journal of Ophthalmology|May 25, 2021
Novel disease-causing variant in <i>RDH12</i> presenting with autosomal dominant retinitis pigmentosaManickam Nick Muthiah, Angelos Kalitzeos, Kate Oprych, et al.
Ophthalmic Genetics|May 26, 2022
Variability of retinopathy consequent upon novel mutations in LAMA1Elena R Schiff, Nancy Aychoua, Savita Nutan, et al.
Molecular Genetics & Genomic Medicine|March 22, 2021
Panel-based genetic testing for inherited retinal disease screening 176 genesLeo H N Sheck, Simona D Esposti, Omar A Mahroo, et al.
Investigative Ophthalmology & Visual Science|June 21, 2023
An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK BiobankMark J Simcoe, Gavin Arno, Pirro G Hysi, et al.
Pageof 19