Lv1
72 积分 2025-07-28 加入
Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ
21天前
已完结
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma
24天前
已完结
Recurrent syncope related to catecholaminergic polymorphic ventricular tachycardia due to de novo RyR2-R2401H mutation
1个月前
已完结
COL4A3 mutations cause focal segmental glomerulosclerosis
1个月前
已完结
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
1个月前
已关闭
Genetic characterization of DDX11 variants identified in a Chinese family with Warsaw breakage syndrome
1个月前
已完结
Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
1个月前
已完结
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
2个月前
已完结
Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene
3个月前
已关闭
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types
3个月前
已完结
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