Lv2
160 积分 2023-05-22 加入
Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review
12天前
已完结
新生儿期发病的经典型异戊酸血症四例分析
15天前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
16天前
已关闭
菏泽市新生儿原发性肉碱缺乏症串联质谱筛查分析
16天前
已完结
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B
20天前
已完结
酪氨酸羟化酶基因变异致多巴反应性肌张力障碍患儿临床及遗传特点分析
23天前
已完结
Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan
24天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
29天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
29天前
已完结
Common and Rare DUOX Variants in Patients With Congenital Hypothyroidism: Case-control Study and Family-based Analysis
1个月前
已完结
皖公网安备34019202002308
