Annals of Human Genetics

Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations.

Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome

梅克尔综合征患者致病性深部内含子变异和外显子 LINE-1 插入的鉴定

The expression of NOTUM in replantation of severed fingers may be an important treatment factor

NOTUM在断指再植中的表达可能是重要的治疗因素

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss

CEACAM16 基因中的一种新型错义变异导致常染色体显性非综合征性听力损失

DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella

DNAH17 与弱精子症和精子鞭毛的多种形态异常有关

The role of WNT1 mutant variant (WNT1c.677C>T ) in osteogenesis imperfecta

WNT1 突变变体 (WNT1c.677C>T ) 在成骨不全症中的作用

p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells

泰国中度粘多糖贮积症 I 型患者中的 p.X654R IDUA 变异及其在 COS-7 细胞中的残留活性

In Vitro Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Different Molecular Routes to Increased Lactase Promoter Activity and Lactase Persistence

乳糖酶增强剂中罕见核苷酸变异的体外功能分析揭示了提高乳糖酶启动子活性和乳糖酶持久性的不同分子途径

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

对最近发现的阿尔茨海默病风险基因座致病机制的初步评估