Madeleine Harion
Paris, France
Last Updated: 09/26/2026
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Found 11 publications
Further characterization of the BRSK2-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: January 13, 2026
Highlighting the value of polymyography in childhood onset movement disorders.
Journal: Frontiers in neurology
Published: December 19, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.
Journal: Science advances
Published: October 17, 2025
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.
Journal: American journal of human genetics
Published: September 23, 2025
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals.
Journal: Pediatric neurology
Published: October 31, 2024
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Journal: Frontiers in genetics
Published: December 07, 2023
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.
Journal: Prenatal diagnosis
Published: August 02, 2023
Relevance of a Simulation Model to Microvascular Surgery for Military Surgical Residents.
Journal: Indian journal of orthopaedics
Published: August 10, 2022
New insights into CC2D2A-related Joubert syndrome.
Journal: Journal of medical genetics
Published: June 20, 2022
Low-fidelity simulation model to microvascular surgery for military surgical residents.
Journal: BMJ military health
Published: January 30, 2022
Microvascular anastomosis using loupes and smartphone magnification: Experimental study for application to limited-resource environments.
Journal: Hand surgery & rehabilitation
Published: July 30, 2019
Showing 1-11 of 11
Last Updated: 09/26/2026