Publications by authors named "C Muti"

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Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
Jérémie Rosain, Tom Le Voyer, Xian Liu, Adrian Gervais, Laura Polivka, Christine Muti

J Exp Med· November 2024

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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis-Beedham

Prenat Diagn· June 2023

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MAN1B1-CDG: Three new individuals and associated biochemical profiles.
Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Christine Muti

Mol Genet Metab Rep· September 2021

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Utility of genetic testing for prenatal presentations of hypophosphatasia.
Brian Sperelakis-Beedham, Agnès Taillandier, Christelle Domingues, Mihelaiti Guberto, Estelle Colin, Christine Muti

Mol Genet Metab· March 2021

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Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Etienne Mornet, Agnès Taillandier, Christelle Domingues, Annika Dufour, Emmanuelle Benaloun, Christine Muti

Eur J Hum Genet· February 2021

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