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COG6‐related prenatal phenotype (CDG2L): Clinico‐pathological report and review of the literature by Sarah Guterman, Agnese Feresin, Lucile Boutaud, Clémence Jacquin, Stanislas Lyonnet, Jean‐Pierre Bernard, Claire Colmant, Philippe Roth, Nicolas Bourgon, Pierre Mace, Alice Thoreau, Yves Ville, Joana Bengoa, Zaina Ait Arkoub, Cécile Fourrage, Ferechté Encha‐Razavi, Bettina Bessières, Tania Attié‐Bitach
Published 2025-04-01Get full text
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Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies by Giulia Barcia, Nicole Chemaly, Stéphanie Gobin‐Limballe, Emma Losito, Mélodie Aubart, Eugénie Sarda, Zahra Assouline, Pauline Plante‐Bordeneuve, Marie Hully, Remi Barrois, Christine Barnerias, Doxa Sareidaki, Delphine Coste Zeitoun, Monika Eisermann, Cécile Fourrage, Sylvain Hanein, Marlène Rio, Nathalie Boddaert, Isabelle Desguerre, Anna Kaminska, Julie Steffann, Rima Nabbout
Published 2025-08-01Get full text
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