Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Inhibition of Mitochondrial-Associated Protein MAGMAS Resensitizes Chemoresistant Prostate Cancer Cells to Docetaxel.

A phase 1b study of cofetuzumab pelidotin monotherapy in patients with PTK7-expressing recurrent non-small cell lung cancer.

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

Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

Effects of carotenoid supplementation on glycemic control: a systematic review and meta-analysis of randomized clinical trials.

Dual Psychosocial Screening of the Adolescent Patient by Implementing the Safe Environment for Every Kid Teen Questionnaire.

Systematic analysis of SCN5A variants associated with inherited cardiac diseases.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Systematic mapping review of player safety, sport science and clinical care in lacrosse.

Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program.

PFMG2025-integrating genomic medicine into the national healthcare system in France.

The Financial Impact of Ehlers-Danlos Syndromes on Patients in the United States in 2022.

Impact of NAFLD-related SNPs on the carotid atherosclerosis development; a five-year prospective observational study.

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