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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2024
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel casesMorten Alstrup, Fabrizia Cesca, Alicja Krawczun-Rygmaczewska, et al.Genes|February 25, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related MyopathiesClaudia Dosi, Anna Rubegni, Jacopo Baldacci, et al.The Journal of Experimental Medicine|September 21, 2021
Implication of folate deficiency in CYP2U1 loss of functionClaire Pujol, Anne Legrand, Livia Parodi, et al.Pageof 4