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American Journal of Medical Genetics. Part A|April 3, 2025
A Novel Deep Intronic Variant in NSD1 Causing Sotos SyndromeAlejandro Parra, Mario Cazalla, Juan A Jimenez-Estrada, et al.Clinical Genetics|May 9, 2025
Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X SyndromeAlejandro Parra, Juan A Jimenez-Estrada, Valeria Vásquez-Amell, et al.American Journal of Human Genetics|October 14, 2020
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2Fleur S van Dijk, Oliver Semler, Julia Etich, et al.Pageof 1