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American Journal of Ophthalmology
|
December 19, 2013
Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene
Dror Sharon, Sermed Al-Hamdani, Karl Engelsberg, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
January 14, 2004
Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes
Gerald A Fishman, Mary Flynn Roberts, Deborah J Derlacki, et al.
Scientific Reports
|
August 21, 2019
TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations
Alaa AlTalbishi, Lina Zelinger, Christina Zeitz, et al.
European Journal of Ophthalmology
|
November 26, 2020
Variable phenotype of Knobloch syndrome due to biallelic <i>COL18A1</i> mutations in children
Nadav Levinger, Karen Hendler, Eyal Banin, et al.
Investigative Ophthalmology & Visual Science
|
March 1, 2018
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations
Ayat Khalaileh, Alaa Abu-Diab, Tamar Ben-Yosef, et al.
Molecular Vision
|
September 8, 2011
Enhanced S-cone function with preserved rod function: a new clinical phenotype
Michael Kinori, Eran Pras, Andrew Kolker, et al.
Investigative Ophthalmology & Visual Science
|
January 30, 2014
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping
Avigail Beryozkin, Lina Zelinger, Dikla Bandah-Rozenfeld, et al.
Molecular Vision
|
April 28, 2021
Heterozygous deletions of noncoding parts of the <i>PRPF31</i> gene cause retinitis pigmentosa via reduced gene expression
Francesco Paolo Ruberto, Sara Balzano, Prasanthi Namburi, et al.
Human Molecular Genetics
|
September 4, 2012
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies
Silvio Alessandro Di Gioia, Stef J F Letteboer, Corinne Kostic, et al.
Frontiers in Molecular Neuroscience
|
July 22, 2021
Knockdown of Dehydrodolichyl Diphosphate Synthase in the <i>Drosophila</i> Retina Leads to a Unique Pattern of Retinal Degeneration
Tal Brandwine, Reut Ifrah, Tzofia Bialistoky, et al.
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of 15
Search research articles
Search
Showing results (61-70 of 150) with videos related to
Sort By:
Page
of 15
American Journal of Ophthalmology
|
December 19, 2013
Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene
Dror Sharon, Sermed Al-Hamdani, Karl Engelsberg, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)
|
January 14, 2004
Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes
Gerald A Fishman, Mary Flynn Roberts, Deborah J Derlacki, et al.
Scientific Reports
|
August 21, 2019
TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations
Alaa AlTalbishi, Lina Zelinger, Christina Zeitz, et al.
European Journal of Ophthalmology
|
November 26, 2020
Variable phenotype of Knobloch syndrome due to biallelic <i>COL18A1</i> mutations in children
Nadav Levinger, Karen Hendler, Eyal Banin, et al.
Investigative Ophthalmology & Visual Science
|
March 1, 2018
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations
Ayat Khalaileh, Alaa Abu-Diab, Tamar Ben-Yosef, et al.
Molecular Vision
|
September 8, 2011
Enhanced S-cone function with preserved rod function: a new clinical phenotype
Michael Kinori, Eran Pras, Andrew Kolker, et al.
Investigative Ophthalmology & Visual Science
|
January 30, 2014
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping
Avigail Beryozkin, Lina Zelinger, Dikla Bandah-Rozenfeld, et al.
Molecular Vision
|
April 28, 2021
Heterozygous deletions of noncoding parts of the <i>PRPF31</i> gene cause retinitis pigmentosa via reduced gene expression
Francesco Paolo Ruberto, Sara Balzano, Prasanthi Namburi, et al.
Human Molecular Genetics
|
September 4, 2012
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies
Silvio Alessandro Di Gioia, Stef J F Letteboer, Corinne Kostic, et al.
Frontiers in Molecular Neuroscience
|
July 22, 2021
Knockdown of Dehydrodolichyl Diphosphate Synthase in the <i>Drosophila</i> Retina Leads to a Unique Pattern of Retinal Degeneration
Tal Brandwine, Reut Ifrah, Tzofia Bialistoky, et al.
Page
of 15