Henri Margot
Bordeaux, 33000, France
Last Updated: 09/26/2026
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Found 34 publications
Clinical and Biologic Characterization of a 3-Level Centiloid-Based Classification of Amyloid PET.
Journal: Journal of nuclear medicine : official publication, Society of Nuclear Medicine
Published: March 31, 2026
Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.
Journal: EBioMedicine
Published: March 17, 2026
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Journal: Genome medicine
Published: December 16, 2025
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.
Journal: HGG advances
Published: November 26, 2025
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.
Journal: European journal of human genetics : EJHG
Published: September 19, 2025
Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.
Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.
Journal: European journal of human genetics : EJHG
Published: September 16, 2025
Vaccination coverage, immune responses, and clinical characteristics in children with PFAPA syndrome: a monocentric prospective study.
Journal: Pediatric rheumatology online journal
Published: July 19, 2025
Novel NOTCH3 alteration expanding the molecular spectrum of pericytic tumours: report of two cases.
Journal: Histopathology
Published: June 17, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Journal: medRxiv : the preprint server for health sciences
Published: April 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Journal: American journal of human genetics
Published: April 01, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Journal: American journal of medical genetics. Part A
Published: January 14, 2025
A clinical and genotype-phenotype analysis of MACF1 variants.
Journal: American journal of human genetics
Published: January 10, 2025
Last Updated: 09/26/2026