Advanced search

Authors whose works are in public domain in at least one jurisdiction

List of works by Salima El Chehadeh

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

scientific article

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

scientific article

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

scientific article

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

scientific article

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis

scientific article published on 25 March 2014

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

scientific article published on 30 July 2020

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

scientific article published on 21 October 2015

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

scientific article published on 8 February 2017

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

scientific article

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

scientific article published on 9 November 2016

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

scientific article published on 27 November 2017

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

scientific article published on August 2010

Severe X-linked chondrodysplasia punctata in nine new female fetuses

scientific article published on 30 March 2015

Paulina is supported by:

About Paulina

Help