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74 积分 2021-12-02 加入
Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype
3天前
已完结
Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years
5天前
已完结
Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years
5天前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
9天前
已完结
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort
11天前
已完结
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort
11天前
已完结
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
16天前
已完结
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis
16天前
已完结
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis
16天前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
17天前
已完结
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