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20 积分 2024-06-27 加入
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype–phenotype relationships
30天前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
30天前
已完结
Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study
1个月前
已完结
A novel JAG1 frameshift variant causing Alagille syndrome with incomplete penetrance
1个月前
已完结
[Human chromosomes in tissue cultures]
1个月前
已关闭
MAGEL2基因杂合变异致婴儿期Schaaf-Yang综合征1例的临床特征与遗传学分析
2个月前
已完结
Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant
3个月前
已完结
[Analysis of MUT gene mutations in a patient with isolated methylmalonic acidemia]
3个月前
已完结
Novel Mutations in Thiazide-Sensitive Na-Cl Cotransporter Gene of Patients with Gitelman's Syndrome
7个月前
已完结
MENTAL DISEASE AND CRIME: OUTLINE OF A COMPARATIVE STUDY OF EUROPEAN STATISTICS
8个月前
已完结
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