Lv2
118 积分 2024-10-25 加入
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects
1天前
已完结
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation
2天前
已完结
Phenotypic and molecular features of Thai patients with primary carnitine deficiency
3天前
已完结
Novel mutation in the UROS gene causing congenital erythropoietic porphyria in an elderly Japanese female
24天前
已完结
Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria
1个月前
已关闭
[Analysis of a child with neurodevelopmental disorders due to variant of HNRNPU gene and a literature review]
1个月前
已关闭
Eccrine syringofibroadenoma as a manifestation of ichthyosis follicularis‐atrichia‐photophobia syndrome‐1
1个月前
已关闭
A novel homozygote nonsense variant of MSH4 leads to primary ovarian insufficiency and non-obstructive azoospermia
1个月前
已完结
Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy
1个月前
已关闭
皖公网安备34019202002308
