Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Andrew R Webster

Showing results (181-190 of 372) with videos related to

Pageof 38
Sort By:
American Journal of Ophthalmology|September 13, 2022
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural HistoryMalena Daich Varela, Michalis Georgiou, Yahya Alswaiti, et al.
Ophthalmology|June 18, 2013
The clinical effect of homozygous ABCA4 alleles in 18 patientsKaoru Fujinami, Panagiotis I Sergouniotis, Alice E Davidson, et al.
Retina (Philadelphia, Pa.)|April 14, 2011
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing lossZubin Saihan, Polona Le Quesne Stabej, Anthony G Robson, et al.
JAMA Ophthalmology|July 9, 2016
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular DystrophySarah Hull, Gavin Arno, Anthony G Robson, et al.
Molecular Therapy. Nucleic Acids|March 13, 2023
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant <i>ABCA4</i> c.5461-10T>CMelita Kaltak, Petra de Bruijn, Davide Piccolo, et al.
American Journal of Ophthalmology|November 17, 2023
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female CarriersMichalis Georgiou, Anthony G Robson, Sami H Uwaydat, et al.
Investigative Ophthalmology & Visual Science|December 14, 2021
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive InheritanceNeringa Jurkute, Fabiana D'Esposito, Anthony G Robson, et al.
The British Journal of Ophthalmology|October 20, 2010
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1Robert H Henderson, Donna S Mackay, Zheng Li, et al.
NPJ Genomic Medicine|May 19, 2026
Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinismMahmoud R Fassad, Pradeep C Vasudevan, Julian Barwell, et al.
Investigative Ophthalmology & Visual Science|March 19, 2010
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosaMai M Abd El-Aziz, Ciara A O'Driscoll, Rebecca S Kaye, et al.
Pageof 38

Showing results (181-190 of 372) with videos related to

Sort By:
Pageof 38
American Journal of Ophthalmology|September 13, 2022
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural HistoryMalena Daich Varela, Michalis Georgiou, Yahya Alswaiti, et al.
Ophthalmology|June 18, 2013
The clinical effect of homozygous ABCA4 alleles in 18 patientsKaoru Fujinami, Panagiotis I Sergouniotis, Alice E Davidson, et al.
Retina (Philadelphia, Pa.)|April 14, 2011
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing lossZubin Saihan, Polona Le Quesne Stabej, Anthony G Robson, et al.
JAMA Ophthalmology|July 9, 2016
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular DystrophySarah Hull, Gavin Arno, Anthony G Robson, et al.
Molecular Therapy. Nucleic Acids|March 13, 2023
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant <i>ABCA4</i> c.5461-10T>CMelita Kaltak, Petra de Bruijn, Davide Piccolo, et al.
American Journal of Ophthalmology|November 17, 2023
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female CarriersMichalis Georgiou, Anthony G Robson, Sami H Uwaydat, et al.
Investigative Ophthalmology & Visual Science|December 14, 2021
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive InheritanceNeringa Jurkute, Fabiana D'Esposito, Anthony G Robson, et al.
The British Journal of Ophthalmology|October 20, 2010
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1Robert H Henderson, Donna S Mackay, Zheng Li, et al.
NPJ Genomic Medicine|May 19, 2026
Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinismMahmoud R Fassad, Pradeep C Vasudevan, Julian Barwell, et al.
Investigative Ophthalmology & Visual Science|March 19, 2010
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosaMai M Abd El-Aziz, Ciara A O'Driscoll, Rebecca S Kaye, et al.
Pageof 38