P072: Use of tadalafil in MEGDEL syndrome by Daniel Schecter, Graeme Preston, Tamas Kozicz, Eva Morava-Kosicz

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P322: The role of large language models in medical genetics by Rona Merdler-Rabinowicz, Eva Morava-Kosicz, Jaya Ganesh, Girish Nadkarni, Eyal Klang

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Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in <i>PGM1</i> and <i>NDUFA13</i> by Silvia Radenkovic, Isabelle Adant, Matthew J. Bird, Johannes V. Swinnen, David Cassiman, Tamas Kozicz, Sarah C. Gruenert, Bart Ghesquière, Eva Morava

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Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation by Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, Dries Verdegem, Christian Thiel, Rita Barone, Mercedes Serrano, Tomáš Honzík, Eva Morava, Pieter Vermeersch, François Foulquier, Willy Morelle, Johannes V. Swinnen, Daisy Rymen, David Cassiman, Bart Ghesquière, Peter Witters

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P325: The ClinGen Congenital Disorders of Glycosylation Gene Curation Expert Panel by Robin Larson, Raquel Fernandez, Carlos Ferreira, Hudson Freeze, Matthew Wilson, Dulce Quelhas, Jennifer Goldstein, Christina Lam, Bobby Ng, Heather Baudet, Daniel Beltran, Hongjie Chen, Andrew Edmondson, Miao He, Essence Kendall, Lois Lander, Jennifer McGlaughon, Eva Morava-Kosicz, Monica Penon Portmann, Jenny Thies, Meredith Weaver

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