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American Journal of Medical Genetics. Part A|April 23, 2018
Williams-Beuren syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Deise Helena de Souza, et al.Brain : a Journal of Neurology|February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDAndrea Cortese, Maike F Dohrn, Riccardo Curro, et al.Nature Communications|June 11, 2024
Cosmic kidney disease: an integrated pan-omic, physiological and morphological study into spaceflight-induced renal dysfunctionKeith Siew, Kevin A Nestler, Charlotte Nelson, et al.Nature Communications|July 9, 2025
Clinical impact of pharmacogenetic risk variants in a large chinese cohortChun-Yu Wei, Ming-Shien Wen, Chih-Kuang Cheng, et al.Pageof 148