Publications by authors named "Adva Kimchi"

Claim this Profile
V
Variable phenotype of Knobloch syndrome due to biallelic mutations in children.
Nadav Levinger, Karen Hendler, Eyal Banin, Mor Hanany, Adva Kimchi

Eur J Ophthalmol· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Heterozygous deletions of noncoding parts of the gene cause retinitis pigmentosa via reduced gene expression.
Francesco Paolo Ruberto, Sara Balzano, Prasanthi Namburi, Adva Kimchi, Rosanna Pescini-Gobert

Mol Vis· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation.
Ana Navarrete, Adva Kimchi, Jaime Levy, Vardiella Meiner, Radgonde Amer

Turk J Ophthalmol· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An Ashkenazi Jewish founder mutation in causes retinal phenotype in both hemizygous males and heterozygous female carriers.
Adva Kimchi, Vardiella Meiner, Shira Silverstein, Michal Macarov, Hagar Mor-Shaked

Ophthalmic Genet· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population.
Mor Hanany, Gilad Allon, Adva Kimchi, Anat Blumenfeld, Hadas Newman

Eur J Hum Genet· August 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Adva Kimchi, Samer Khateb, Rong Wen, Ziqiang Guan, Alexey Obolensky

Ophthalmology· May 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Laurence H M Pierrache, Adva Kimchi, Rinki Ratnapriya, Lisa Roberts, Galuh D N Astuti

Ophthalmology· July 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
OR2W3 sequence variants are unlikely to cause inherited retinal diseases.
Dror Sharon, Adva Kimchi, Carlo Rivolta

Ophthalmic Genet· December 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
Pooja Biswas, Venkata Ramana Murthy Chavali, Giulia Agnello, Everett Stone, Christina Chakarova, Adva Kimchi

Hum Mol Genet· June 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
Mingchu Xu, Takeyuki Yamada, Zixi Sun, Aiden Eblimit, Irma Lopez, Adva Kimchi

Hum Mol Genet· April 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
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 DYSF.
Csilla H Lazar, Adva Kimchi, Prasanthi Namburi, Mousumi Mutsuddi, Lina Zelinger

Hum Mutat· September 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
Avigail Beryozkin, Elia Shevah, Adva Kimchi, Liliana Mizrahi-Meissonnier, Samer Khateb

Sci Rep· August 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Csilla H Lazar, Mousumi Mutsuddi, Adva Kimchi, Lina Zelinger, Liliana Mizrahi-Meissonnier

Invest Ophthalmol Vis Sci· December 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis