Didier Lacombe

Bordeaux, France

Last Updated: 09/26/2026

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Found 238 publications

RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Journal: EClinicalMedicine

Published: March 24, 2026

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

Journal: European journal of human genetics : EJHG

Published: November 27, 2025

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

Journal: Nature communications

Published: September 23, 2025

Cost-Effectiveness and Public Health Impact of Newborn Screening for Spinal Muscular Atrophy in France.

Cost-Effectiveness and Public Health Impact of Newborn Screening for Spinal Muscular Atrophy in France.

Journal: Applied health economics and health policy

Published: July 25, 2025

Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients' expectations and preferences from the prospective, non-interventional SATIS-Fab study.

Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients' expectations and preferences from the prospective, non-interventional SATIS-Fab study.

Journal: Orphanet journal of rare diseases

Published: July 21, 2025

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Journal: Heart rhythm

Published: July 15, 2025

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Journal: Journal of medical genetics

Published: July 08, 2025

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine

Published: June 19, 2025

A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.

A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.

Journal: International journal of molecular sciences

Published: June 13, 2025

Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies.

Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies.

Journal: Molecular genetics and metabolism reports

Published: March 30, 2025

Repression of oxidative phosphorylation by NR2F2, MTERF3 and GDF15 in human skin under high-glucose stress.

Repression of oxidative phosphorylation by NR2F2, MTERF3 and GDF15 in human skin under high-glucose stress.

Journal: Redox biology

Published: January 18, 2025

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Journal: Genome medicine

Published: December 11, 2024

Showing 1-12 of 238

Last Updated: 09/26/2026