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Human Mutation|February 5, 2019
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfectaLulu Li, Bin Mao, Shan Li, et al.Journal of Neurology|February 7, 2026
JAK2 pathogenic variants in ischemic stroke: low prevalence and pre-screening modelJialu Zhao, Siqi Ge, Shujun Gao, et al.American Journal of Human Genetics|May 26, 2009
Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasiaMiao Sun, Ning Li, Wu Dong, et al.Pageof 4