Lv61
3020 积分 2021-09-02 加入
A rare severe tuberculosis cutis orificialis in a patient with compound heterozygous mutations in the PRF1 gene
8分钟前
待确认
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children
48分钟前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
1小时前
已完结
家族性噬血细胞性淋巴组织细胞增多症一例病因和遗传学研究
1小时前
求助中
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
6小时前
已完结
[Clinical analysis of seven cases with primary hyperoxaluria type 1 in children]
6小时前
已完结
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy
4天前
已完结
A novel microsatellite polymorphism of sodium channel beta1-subunit gene (SCN1B) may underlie abnormal cardiac excitation manifested by coved-type ST-elevation compatible with Brugada syndrome in Japanese
6天前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
11天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
21天前
已完结
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