Aicha Boughalem
L'aumone, France
Last Updated: 09/26/2026
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Found 12 publications
The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: August 31, 2024
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
Journal: European journal of human genetics : EJHG
Published: July 11, 2024
Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.
Journal: Frontiers in genetics
Published: February 01, 2024
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
Journal: Genes
Published: September 24, 2022
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Journal: European journal of human genetics : EJHG
Published: December 14, 2021
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 30, 2021
Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
Journal: Journal of clinical medicine
Published: July 08, 2020
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Journal: Clinical genetics
Published: September 17, 2019
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Journal: Human mutation
Published: January 05, 2019
Showing 1-12 of 12
Last Updated: 09/26/2026