Lv22
120 积分 2025-07-09 加入
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism
6天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
6天前
已完结
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
14天前
已完结
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria
14天前
已完结
[Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia]
14天前
已关闭
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
14天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
16天前
已完结
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran
23天前
已完结
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
26天前
已完结
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa
26天前
已完结
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