Lv1
18 积分 2023-08-09 加入
Spectrum of HBB gene mutations among 696 β–thalassemia patients and carriers in Southern Vietnam
8小时前
待确认
Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review
9小时前
求助中
[Report of a Chinese pedigree affected with Neurodevelopmental disorder with absent language and variable seizures due to variant of WASF1 gene and a literature review]
9小时前
已完结
Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma
12小时前
已关闭
Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?
15天前
已关闭
Consider CUX1 variants in children with a variation of sex development: a case report and review of the literature
15天前
已完结
[A pathogenic mutation in the COPA gene causes a family of COPA syndrome]
21天前
已完结
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
22天前
已完结
Structure of the Human Type IV Collagen Gene COL4A3 and Mutations in Autosomal Alport Syndrome
23天前
已完结
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
27天前
已完结
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