Lv3
220 积分 2025-02-23 加入
[Cardiac troponin I gene mutation (Asp127Tyr) in a Chinese patient with hypertrophic cardiomyopathy]
6天前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
23天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1个月前
已完结
Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia
2个月前
已完结
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
2个月前
已完结
Clinical features and gene mutations in a patient with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver
3个月前
已完结
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis
3个月前
已完结
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum
3个月前
已完结
Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ
4个月前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
4个月前
已完结
皖公网安备34019202002308
