Lv21
150 积分 2025-09-23 加入
Phenotypic and genotypic characteristics of children with Bartter syndrome
54分钟前
待确认
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
8天前
已完结
Spectrum of Mutations in Gitelman Syndrome
14天前
已关闭
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
17天前
已完结
Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias
24天前
已完结
Exceptional Response of Pancreatic Acinar Cell Carcinoma and Bile Duct Cancer to Platinum-Based Chemotherapy in a Family With a Germline BRCA2 Variant
27天前
已完结
Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals
28天前
已完结
RPGRIP1 -related retinal disease presenting as isolated cone dysfunction
1个月前
已完结
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
1个月前
已完结
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
1个月前
已完结
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