Lv1
60 积分 2023-02-16 加入
Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
4天前
已完结
[The study of gene mutations in unknown refractory viral infection and primary hemophagocytic lymphohistiocytosis]
15天前
已关闭
[Four cases of nephrotic syndrome with TRPC6 gene variations and literature review]
15天前
已完结
A novel mutation (-195C>A) in the promoter region of CFTR gene is associated with Chinese Congenital Bilateral Absence of Vas Deferens (CBAVD)
21天前
已关闭
[Analysis of TMC1 gene variants and prenatal diagnosis in four Chinese families affected with deafness]
22天前
已完结
Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency
28天前
已完结
Abstracts of ICIEM 2013, the 12th International Congress of Inborn Errors of Metabolism. Barcelona, Spain. September 3-6, 2013
28天前
已关闭
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
1个月前
已完结
Genetic and clinical profile of 15 Chinese families with GDAP1‐related Charcot–Marie–Tooth disease and identification of H256R as a frequent mutation
1个月前
已完结
Fetal Hemoglobin H Hydrops Fetalis: Another Three Case Reports
1个月前
已完结
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