Lv62
2260 积分 2024-05-20 加入
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
4天前
已完结
Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting
4天前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
6天前
已完结
Clinical phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy
10天前
已完结
Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases
15天前
已完结
Prothrombin Greenville, Arg517→Gln, Identified in an Individual Heterozygous for Dysprothrombinemia
16天前
已完结
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation
1个月前
已完结
Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4
1个月前
已完结
Functional Characteristics and Tissue Distribution Pattern of Organic Cation Transporter 2 (OCTN2), an Organic Cation/Carnitine Transporter
1个月前
已关闭
Isolated familial pneumothorax in a Taiwanese family with Birt-Hogg-Dubé syndrome
2个月前
已关闭
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