Lv4
570 积分 2026-02-09 加入
CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families
3天前
已完结
Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities
11天前
已关闭
Tandem duplication 11q23-ter in the dysmorphic child of a retarded mother mosaic for the same anomaly with no apparent abnormalities
11天前
已关闭
Platelet CD36 deficiency is present in 2.6% of Arabian individuals and can cause NAIT and platelet refractoriness
20天前
已完结
Incidence and molecular basis of CD36 deficiency in Shanghai population
20天前
已完结
Frequency of CD36 deficiency in Thais analyzed by quantification of CD36 on cell surfaces and in plasma
20天前
已完结
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression
21天前
已完结
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing #
21天前
已完结
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2
21天前
已完结
Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na–Cl cotransporter mutations
1个月前
已完结
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