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Andrew R Webster

Showing results (131-140 of 372) with videos related to

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Ophthalmic Genetics|May 26, 2022
Variability of retinopathy consequent upon novel mutations in LAMA1Elena R Schiff, Nancy Aychoua, Savita Nutan, et al.
Genes|June 27, 2024
Enhanced Learning and Memory in Patients with <i>CRB1</i> RetinopathyGenevieve A Wright, Ana Catalina Rodriguez-Martinez, Hanne Conn, 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.
Orphanet Journal of Rare Diseases|August 9, 2013
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencingHeather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, 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.
Human Molecular Genetics|January 29, 2019
Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeuticsHajrah Sarkar, Andreas Mitsios, Matthew Smart, et al.
American Journal of Ophthalmology|September 7, 2015
Retinal Architecture in ​RGS9- and ​R9AP-Associated Retinal Dysfunction (Bradyopsia)Rupert W Strauss, Adam M Dubis, Robert F Cooper, et al.
Investigative Ophthalmology & Visual Science|August 10, 2022
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1Maria Pilar Martin-Gutierrez, Elena R Schiff, Genevieve Wright, et al.
Ophthalmology|October 11, 2020
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical TrialsGiuseppe Casalino, Kamron N Khan, Monica Armengol, et al.
Investigative Ophthalmology & Visual Science|November 1, 2011
Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8Cécilia G Maubaret, Veronika Vaclavik, Rajarshi Mukhopadhyay, et al.
Pageof 38

Showing results (131-140 of 372) with videos related to

Sort By:
Pageof 38
Ophthalmic Genetics|May 26, 2022
Variability of retinopathy consequent upon novel mutations in LAMA1Elena R Schiff, Nancy Aychoua, Savita Nutan, et al.
Genes|June 27, 2024
Enhanced Learning and Memory in Patients with <i>CRB1</i> RetinopathyGenevieve A Wright, Ana Catalina Rodriguez-Martinez, Hanne Conn, 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.
Orphanet Journal of Rare Diseases|August 9, 2013
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencingHeather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, 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.
Human Molecular Genetics|January 29, 2019
Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeuticsHajrah Sarkar, Andreas Mitsios, Matthew Smart, et al.
American Journal of Ophthalmology|September 7, 2015
Retinal Architecture in ​RGS9- and ​R9AP-Associated Retinal Dysfunction (Bradyopsia)Rupert W Strauss, Adam M Dubis, Robert F Cooper, et al.
Investigative Ophthalmology & Visual Science|August 10, 2022
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1Maria Pilar Martin-Gutierrez, Elena R Schiff, Genevieve Wright, et al.
Ophthalmology|October 11, 2020
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical TrialsGiuseppe Casalino, Kamron N Khan, Monica Armengol, et al.
Investigative Ophthalmology & Visual Science|November 1, 2011
Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8Cécilia G Maubaret, Veronika Vaclavik, Rajarshi Mukhopadhyay, et al.
Pageof 38