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In-Depth Phenotyping of <i>PIGW</i>-Related Disease and Its Role in 17q12 Genomic Disorder by Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm, Caterina Zanus, Elisa Paccagnella, Irene Bruno, Erica Valencic, Anna Morgan, Alberto Tommasini, Christel Thauvin, Allan Bayat, Giorgia Girotto, Luciana Musante
Published 2024-12-01Get full text
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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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