Publication
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, Peter Witters, Anna Cechova, Tomáš Honzik, Andrew C. Edmondson, Can Ficicioglu, Rita Barone, Pascale De Lonlay, Claire-Marine Bérat, Sandrine Vuillaumier-Barrot, Christina Lam, Marc C. Patterson, Mirian C. H. Janssen, Esmeralda Martins, Dulce Quelhas, Jolanta Sykut-Cegielska, Jehan Mousa, Roser Urreizti, Peter McWilliams, Frederique Vernhes, Horacio Plotkin, Eva Morava, Katrin Õunap
Human Mutation, January 2024, Wiley
DOI: 10.1155/2024/8813121