Lv55
1220 积分 2023-08-30 加入
Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy
7天前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
7天前
已完结
Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan
8天前
已完结
Expanding the spectrum of genetic causes of DNA-specific exonuclease TREX1 variants in thrombotic microangiopathy
16天前
已完结
Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China
16天前
已完结
A case of hereditary thrombophilia in a Chinese Han patient with both antithrombin deficiency and Factor V Leiden: A case report and literature review
16天前
已关闭
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
19天前
已完结
Heterozygous Variants in a Patient with Karyomegalic Interstitial Nephritis
21天前
已完结
Five new mutations in the PROS1 gene associated with protein S deficiency in Polish patients screened for thrombophilia: efficacy of direct oral anticoagulant treatment
27天前
已完结
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