Liliana Meissonnier-Mizrahi
Jerusalem, JM, Israel
Last Updated: 09/26/2026
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Found 10 publications
Knockdown of Dehydrodolichyl Diphosphate Synthase in the Drosophila Retina Leads to a Unique Pattern of Retinal Degeneration.
Journal: Frontiers in molecular neuroscience
Published: April 12, 2021
Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data.
Journal: Journal of medical genetics
Published: February 07, 2016
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
Journal: Scientific reports
Published: March 13, 2015
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
Journal: JAMA ophthalmology
Published: December 27, 2014
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Journal: Investigative ophthalmology & visual science
Published: December 18, 2014
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
Journal: Journal of medical genetics
Published: May 01, 2014
Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.
Journal: American journal of ophthalmology
Published: September 10, 2013
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Journal: Archives of ophthalmology (Chicago, Ill. : 1960)
Published: November 13, 2012
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.
Journal: Investigative ophthalmology & visual science
Published: November 10, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026