Publications by authors named "P Labrune"

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Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays.
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Philippe Labrune

Clin Genet· December 2025

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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat, Philippe Labrune

J Med Genet· March 2025

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Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
D A Weinstein, R J Jackson, E A Brennan, M Williams, J E Davison, P Labrune

Orphanet J Rare Dis· August 2024

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Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
D A Weinstein, R J Jackson, E A Brennan, M Williams, J E Davison, P Labrune

Orphanet J Rare Dis· July 2024

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CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Clara D M van Karnebeek, Maja Tarailo-Graovac, René Leen, Rutger Meinsma, Solenne Correard, Philippe Labrune

Genet Med· June 2024

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