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Genes
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July 29, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis
Sofia Kulyamzin, Rina Leibu, Hadas Newman, et al.
Human Mutation
|
August 29, 2019
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
Dror Sharon, Tamar Ben-Yosef, Nitza Goldenberg-Cohen, et al.
Investigative Ophthalmology & Visual Science
|
February 27, 2024
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population
Avigail Beryozkin, Ifat Sher, Miriam Ehrenberg, et al.
Human Molecular Genetics
|
April 11, 2015
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, et al.
JAMA Ophthalmology
|
May 16, 2024
Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population
Sapir Shalom, Tamar Ben-Yosef, Ifat Sher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy
Miriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 21, 2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, et al.
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Search research articles
Search
Showing results (31-40 of 37) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 37 results.
Genes
|
July 29, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis
Sofia Kulyamzin, Rina Leibu, Hadas Newman, et al.
Human Mutation
|
August 29, 2019
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
Dror Sharon, Tamar Ben-Yosef, Nitza Goldenberg-Cohen, et al.
Investigative Ophthalmology & Visual Science
|
February 27, 2024
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population
Avigail Beryozkin, Ifat Sher, Miriam Ehrenberg, et al.
Human Molecular Genetics
|
April 11, 2015
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, et al.
JAMA Ophthalmology
|
May 16, 2024
Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population
Sapir Shalom, Tamar Ben-Yosef, Ifat Sher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy
Miriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 21, 2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, et al.
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of 4