Publications by authors named "Magali Barth"

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New insights into -related Joubert syndrome.
Madeleine Harion, Leila Qebibo, Audrey Riquet, Christelle Rougeot, Alexandra Afenjar, Magali Barth

J Med Genet· June 2023

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Delineating the genotypic and phenotypic spectrum of -related neurodevelopmental disorders.
Anushree Acharya, Haluk Kavus, Patrick Dunn, Abdul Nasir, Leandra Folk, Magali Barth

J Med Genet· July 2022

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Natural History of Adult Patients with GM2 Gangliosidosis.
Marion Masingue, Louis Dufour, Timothée Lenglet, Lisa Saleille, Cyril Goizet, Magali Barth

Ann Neurol· April 2020

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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
Laura Mary, Amélie Piton, Elise Schaefer, Francesca Mattioli, Elsa Nourisson, Magali Barth

Eur J Hum Genet· July 2018

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Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, François Labarthe

J Med Genet· December 2017

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