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Ophthalmology
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March 5, 2013
A phenotype-genotype correlation study of X-linked retinoschisis
Ajoy Vincent, Anthony G Robson, Magella M Neveu, et al.
Investigative Ophthalmology & Visual Science
|
September 3, 2010
A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls
Panagiotis I Sergouniotis, Zheng Li, Donna S Mackay, et al.
Journal of Medical Genetics
|
December 18, 2025
Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous <i>CTNND1</i> mutations in FEVR
Dong Sun, Robert H Henderson, Emma Clement, et al.
Genes
|
June 27, 2024
Enhanced Learning and Memory in Patients with <i>CRB1</i> Retinopathy
Genevieve A Wright, Ana Catalina Rodriguez-Martinez, Hanne Conn, et al.
American Journal of Ophthalmology
|
March 24, 2024
IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History
Sagnik Sen, Lorenzo Fabozzi, Kaoru Fujinami, et al.
Ophthalmology
|
May 3, 2011
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus)
Panagiotis I Sergouniotis, Elliott H Sohn, Zheng Li, et al.
Investigative Ophthalmology & Visual Science
|
August 29, 2013
ABCA4 gene screening by next-generation sequencing in a British cohort
Kaoru Fujinami, Jana Zernant, Ravinder K Chana, et al.
American Journal of Human Genetics
|
November 3, 2009
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans
Zheng Li, Panagiotis I Sergouniotis, Michel Michaelides, et al.
The British Journal of Ophthalmology
|
December 17, 2011
Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2
Mala Subash, Tryfonas Rotsos, Genevieve A Wright, et al.
Ophthalmology
|
October 15, 2014
Clinical and molecular characteristics of childhood-onset Stargardt disease
Kaoru Fujinami, Jana Zernant, Ravinder K Chana, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 20) with videos related to
Sort By:
Page
of 2
Ophthalmology
|
March 5, 2013
A phenotype-genotype correlation study of X-linked retinoschisis
Ajoy Vincent, Anthony G Robson, Magella M Neveu, et al.
Investigative Ophthalmology & Visual Science
|
September 3, 2010
A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls
Panagiotis I Sergouniotis, Zheng Li, Donna S Mackay, et al.
Journal of Medical Genetics
|
December 18, 2025
Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous <i>CTNND1</i> mutations in FEVR
Dong Sun, Robert H Henderson, Emma Clement, et al.
Genes
|
June 27, 2024
Enhanced Learning and Memory in Patients with <i>CRB1</i> Retinopathy
Genevieve A Wright, Ana Catalina Rodriguez-Martinez, Hanne Conn, et al.
American Journal of Ophthalmology
|
March 24, 2024
IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History
Sagnik Sen, Lorenzo Fabozzi, Kaoru Fujinami, et al.
Ophthalmology
|
May 3, 2011
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus)
Panagiotis I Sergouniotis, Elliott H Sohn, Zheng Li, et al.
Investigative Ophthalmology & Visual Science
|
August 29, 2013
ABCA4 gene screening by next-generation sequencing in a British cohort
Kaoru Fujinami, Jana Zernant, Ravinder K Chana, et al.
American Journal of Human Genetics
|
November 3, 2009
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans
Zheng Li, Panagiotis I Sergouniotis, Michel Michaelides, et al.
The British Journal of Ophthalmology
|
December 17, 2011
Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2
Mala Subash, Tryfonas Rotsos, Genevieve A Wright, et al.
Ophthalmology
|
October 15, 2014
Clinical and molecular characteristics of childhood-onset Stargardt disease
Kaoru Fujinami, Jana Zernant, Ravinder K Chana, et al.
Page
of 2