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List of works by Eliane Chouery

A Homozygous Splicing Mutation in PDE2A in a Family with Atypical Rett Syndrome

scientific article published on 20 March 2020

A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability

scientific article published on 24 June 2020

Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1.

scientific article published on 10 March 2018

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scientific article

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene ⬇️

scientific article published on January 19, 2011

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.

scientific article

Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations ⬇️

scientific article published on November 1, 2001

Mild Campomelic Dysplasia: Report on a Case and Review ⬇️

scientific article published on January 10, 2011

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

scientific article

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon ⬇️

scientific article published on June 19, 2012

Report of a Novel Mutation inCRB1in a Lebanese Family Presenting Retinal Dystrophy ⬇️

scientific article published on January 30, 2013

Report on a Patient with a 12q24.31 Microdeletion Inherited from an Insulin-Dependent Diabetes Mellitus Father ⬇️

scientific article published on January 15, 2013

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

scientific article published on 21 January 2019

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