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JAMA Ophthalmology
|
July 9, 2016
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
Sarah Hull, Gavin Arno, Anthony G Robson, et al.
Human Genetics
|
June 17, 2005
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations
Tim Forshew, Colin A Johnson, Shagufta Khaliq, et al.
Investigative Ophthalmology & Visual Science
|
December 14, 2021
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance
Neringa 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 CRB1
Robert H Henderson, Donna S Mackay, Zheng Li, et al.
Investigative Ophthalmology & Visual Science
|
May 31, 2002
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy
Dawn L Thiselton, Christiane Alexander, Jan-Willem Taanman, et al.
Annals of Neurology
|
May 6, 2003
Polymicrogyria and absence of pineal gland due to PAX6 mutation
Tejal N Mitchell, Samantha L Free, Kathleen A Williamson, et al.
Plos One
|
March 30, 2017
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease
Stanley Lambertus, Nathalie M Bax, Ana Fakin, et al.
Progress in Retinal and Eye Research
|
August 30, 2020
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
Samantha R De Silva, Gavin Arno, Anthony G Robson, et al.
Immunobiology
|
October 26, 2011
Genetic variation in complement regulators and susceptibility to age-related macular degeneration
Valentina Cipriani, Baljinder K Matharu, Jane C Khan, et al.
Ophthalmology
|
April 4, 2017
Benign Yellow Dot Maculopathy: A New Macular Phenotype
Arundhati Dev Borman, Aleksandra Rachitskaya, Martina Suzani, et al.
Page
of 28
Search research articles
Search
Showing results (151-160 of 277) with videos related to
Sort By:
Page
of 28
JAMA Ophthalmology
|
July 9, 2016
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
Sarah Hull, Gavin Arno, Anthony G Robson, et al.
Human Genetics
|
June 17, 2005
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations
Tim Forshew, Colin A Johnson, Shagufta Khaliq, et al.
Investigative Ophthalmology & Visual Science
|
December 14, 2021
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance
Neringa 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 CRB1
Robert H Henderson, Donna S Mackay, Zheng Li, et al.
Investigative Ophthalmology & Visual Science
|
May 31, 2002
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy
Dawn L Thiselton, Christiane Alexander, Jan-Willem Taanman, et al.
Annals of Neurology
|
May 6, 2003
Polymicrogyria and absence of pineal gland due to PAX6 mutation
Tejal N Mitchell, Samantha L Free, Kathleen A Williamson, et al.
Plos One
|
March 30, 2017
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease
Stanley Lambertus, Nathalie M Bax, Ana Fakin, et al.
Progress in Retinal and Eye Research
|
August 30, 2020
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
Samantha R De Silva, Gavin Arno, Anthony G Robson, et al.
Immunobiology
|
October 26, 2011
Genetic variation in complement regulators and susceptibility to age-related macular degeneration
Valentina Cipriani, Baljinder K Matharu, Jane C Khan, et al.
Ophthalmology
|
April 4, 2017
Benign Yellow Dot Maculopathy: A New Macular Phenotype
Arundhati Dev Borman, Aleksandra Rachitskaya, Martina Suzani, et al.
Page
of 28