Lv41
486 积分 2025-07-22 加入
Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants
2天前
已完结
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay
18天前
已完结
Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis
1个月前
已完结
Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations
1个月前
已完结
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy
1个月前
已完结
Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure
2个月前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
2个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
2个月前
已完结
Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing
2个月前
已完结
Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population
2个月前
已完结
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