Publications by authors named "P Fergelot"

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genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations.
Henri Margot, Natalia Hernandez Poblete, Chloé Angelini, Julie Desforges, Julie Bouron, Patricia Fergelot

J Med Genet· March 2025

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Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.
Chloé Angelini, Claire Bar, Marie Pierre Baudier, Patricia Fergelot, Gwenaëlle Lancelot

Eur J Pain· January 2025

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Sadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, Michael A Levy, Jennifer Kerkhof, Patricia Fergelot

HGG Adv· October 2024

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Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome.
Julien Van Gils, Slim Karkar, Aurélien Barre, Seyta Ley-Ngardigal, Sophie Nothof, Patricia Fergelot

Commun Biol· October 2024

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Sadegheh Haghshenas, Hidde J Bout, Josephine M Schijns, Michael A Levy, Jennifer Kerkhof, Patricia Fergelot

HGG Adv· July 2024

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