Bruno Leheup

Vandoeuvre-les-nancy, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 84 publications

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Journal: Journal of medical genetics

Published: March 14, 2025

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Journal: Journal of medical genetics

Published: April 02, 2024

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.

Journal: European journal of human genetics : EJHG

Published: March 12, 2024

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.

Journal: American journal of medical genetics. Part A

Published: March 05, 2024

Cross-Talk between miRNAs from the Dlk1-Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor Deficiency.

Cross-Talk between miRNAs from the Dlk1-Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor Deficiency.

Journal: Molecular nutrition & food research

Published: January 24, 2023

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.

Journal: Genome medicine

Published: November 22, 2022

MAST1-related mega-corpus-callosum syndrome with central hypogonadism.

MAST1-related mega-corpus-callosum syndrome with central hypogonadism.

Journal: European journal of medical genetics

Published: October 13, 2022

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Journal: Clinical genetics

Published: August 18, 2022

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Journal: Journal of medical genetics

Published: August 08, 2022

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.

Journal: European journal of medical genetics

Published: July 08, 2022

Growth Hormone Dose Modulation and Final Height in Short Children Born Small for Gestational Age: French Real-Life Data.

Growth Hormone Dose Modulation and Final Height in Short Children Born Small for Gestational Age: French Real-Life Data.

Journal: Hormone research in paediatrics

Published: May 13, 2022

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Journal: The Journal of clinical endocrinology and metabolism

Published: April 12, 2022

Showing 1-12 of 84

Last Updated: 09/26/2026