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Investigative Ophthalmology & Visual Science
|
May 3, 2024
Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies
Amit V Mishra, Sandra Vermeirsch, Siying Lin, et al.
Molecular Vision
|
March 20, 2010
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy
Donna S Mackay, Robert H Henderson, Panagiotis I Sergouniotis, et al.
Human Mutation
|
December 31, 2013
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity
Arundhati Dev Borman, Laura R Pearce, Donna S Mackay, et al.
American Journal of Human Genetics
|
August 16, 2006
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans
Huimin Wu, Jill A Cowing, Michel Michaelides, et al.
Investigative Ophthalmology & Visual Science
|
April 26, 2008
Phenotypic variation in enhanced S-cone syndrome
Isabelle Audo, Michel Michaelides, Anthony G Robson, et al.
Investigative Ophthalmology & Visual Science
|
August 9, 2014
A prospective longitudinal study of retinal structure and function in achromatopsia
Jonathan Aboshiha, Adam M Dubis, Jill Cowing, et al.
Ophthalmology Science
|
April 23, 2026
Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-Retinopathy
Juan C Romo-Aguas, Thales A C de Guimarāes, Angelos Kalitzeos, et al.
Clinical Genetics
|
June 12, 2024
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
Siying Lin, Anthony G Robson, Dorothy A Thompson, et al.
Eye (London, England)
|
April 9, 2026
Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review
Mohammad Anas, Andrew C Browning, Siying Lin, et al.
Human Mutation
|
January 29, 2003
Mutations in the CACNA1F and NYX genes in British CSNBX families
Ilaria Zito, Louise E Allen, Reshma J Patel, et al.
Page
of 38
Search research articles
Search
Showing results (231-240 of 372) with videos related to
Sort By:
Page
of 38
Investigative Ophthalmology & Visual Science
|
May 3, 2024
Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies
Amit V Mishra, Sandra Vermeirsch, Siying Lin, et al.
Molecular Vision
|
March 20, 2010
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy
Donna S Mackay, Robert H Henderson, Panagiotis I Sergouniotis, et al.
Human Mutation
|
December 31, 2013
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity
Arundhati Dev Borman, Laura R Pearce, Donna S Mackay, et al.
American Journal of Human Genetics
|
August 16, 2006
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans
Huimin Wu, Jill A Cowing, Michel Michaelides, et al.
Investigative Ophthalmology & Visual Science
|
April 26, 2008
Phenotypic variation in enhanced S-cone syndrome
Isabelle Audo, Michel Michaelides, Anthony G Robson, et al.
Investigative Ophthalmology & Visual Science
|
August 9, 2014
A prospective longitudinal study of retinal structure and function in achromatopsia
Jonathan Aboshiha, Adam M Dubis, Jill Cowing, et al.
Ophthalmology Science
|
April 23, 2026
Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-Retinopathy
Juan C Romo-Aguas, Thales A C de Guimarāes, Angelos Kalitzeos, et al.
Clinical Genetics
|
June 12, 2024
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity
Siying Lin, Anthony G Robson, Dorothy A Thompson, et al.
Eye (London, England)
|
April 9, 2026
Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review
Mohammad Anas, Andrew C Browning, Siying Lin, et al.
Human Mutation
|
January 29, 2003
Mutations in the CACNA1F and NYX genes in British CSNBX families
Ilaria Zito, Louise E Allen, Reshma J Patel, et al.
Page
of 38