Varoona Bizaoui

Caen, 14000, France

Last Updated: 09/26/2026

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Found 15 publications

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.

Journal: Brain : a journal of neurology

Published: June 08, 2024

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Journal: Human genetics

Published: December 14, 2023

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: May 10, 2023

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Journal: Frontiers in genetics

Published: December 13, 2022

Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.

Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.

Journal: Disease models & mechanisms

Published: November 16, 2022

Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.

Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.

Journal: American journal of medical genetics. Part A

Published: August 16, 2022

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

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

Published: January 24, 2022

The role of three-dimensional printing in coronavirus disease-19 medical management: A French nationwide survey.

The role of three-dimensional printing in coronavirus disease-19 medical management: A French nationwide survey.

Journal: Annals of 3D printed medicine

Published: March 01, 2021

Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.

Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.

Journal: Clinical genetics

Published: November 25, 2020

Speech and language deficits are central to SETBP1 haploinsufficiency disorder.

Speech and language deficits are central to SETBP1 haploinsufficiency disorder.

Journal: European journal of human genetics : EJHG

Published: November 20, 2020

Correction to: Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.

Correction to: Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.

Journal: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA

Published: April 05, 2020

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Journal: Clinical genetics

Published: March 29, 2019

Showing 1-12 of 15

Last Updated: 09/26/2026