Salima E. Chehadeh

Strasbourg, France

Last Updated: 09/26/2026

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Found 9 publications

Peripheral arterial lesions detected by vascular ultrasound and their association with aortic events in heritable thoracic aortic diseases.

Peripheral arterial lesions detected by vascular ultrasound and their association with aortic events in heritable thoracic aortic diseases.

Journal: International journal of cardiology. Heart & vasculature

Published: December 31, 2025

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Journal: Frontiers in genetics

Published: December 05, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Induced Inflammation.

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Induced Inflammation.

Journal: Journal of clinical immunology

Published: February 25, 2022

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 01, 2016

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.

Journal: Clinical genetics

Published: August 01, 2015

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

Journal: American journal of medical genetics. Part A

Published: March 22, 2014

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

Journal: American journal of medical genetics. Part A

Published: May 07, 2013

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

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

Journal: American journal of medical genetics. Part A

Published: April 19, 2013

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Last Updated: 09/26/2026