Showing results (21-30 of 26) with videos related to
Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
Human Mutation|June 17, 2015
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSFCsilla H Lazar, Adva Kimchi, Prasanthi Namburi, et al.Investigative Ophthalmology & Visual Science|February 27, 2024
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli PopulationAvigail Beryozkin, Ifat Sher, Miriam Ehrenberg, et al.American Journal of Human Genetics|June 11, 2013
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophySusanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, et al.American Journal of Human Genetics|August 13, 2011
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosaRıza Köksal Ozgül, Anna M Siemiatkowska, Didem Yücel, et al.Scientific Reports|August 27, 2015
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited RetinopathiesAvigail Beryozkin, Elia Shevah, Adva Kimchi, et al.Ophthalmology|April 17, 2017
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by PseudocolobomaLaurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, et al.Pageof 3