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Human Mutation|September 20, 2022
Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasiaYuying Zhang, Jian Li, Yaoting Ji, et al.Human Mutation|October 11, 2022
MicroRNA binding site variation is enriched in psychiatric disordersMichael P Geaghan, William R Reay, Murray J CairnsHuman Mutation|September 2, 2022
Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiencyVictorya Zakharova, Elena Raykina, Irina Mersiyanova, et al.Human Mutation|January 13, 2022
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymesJennifer H Yang, Marisa W Friederich, Katarzyna A Ellsworth, et al.Human Mutation|January 1, 1994
Loss of heterozygosity on chromosome 5 in sporadic ovarian carcinoma is a late event and is not associated with mutations in APC at 5q21-22G J Allan, S Cottrell, J Trowsdale, et al.Human Mutation|January 1, 1994
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A geneC M Eng, R J DesnickHuman Mutation|January 1, 1994
A rapid and simple DNA fingerprinting method using RFLP and SSCP analysis of the hypervariable noncoding region of human mitochondrial DNAE A Pushnova, S N Akhmedova, S P Shevtsov, et al.Human Mutation|January 1, 1994
Mutation analysis of Jewish Hunter patients in IsraelE Ben Simon-Schiff, G Bach, J J Hopwood, et al.Human Mutation|January 1, 1994
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathyG Silvestri, F M Santorelli, S Shanske, et al.Human Mutation|January 1, 1994
Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestriesY Ma, M S Liu, D Chitayat, et al.Pageof 583