Lv31
272 积分 2025-07-22 加入
Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations
4小时前
已完结
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy
7天前
已完结
Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure
21天前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
26天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
26天前
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
26天前
已完结
Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population
26天前
已完结
Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy
26天前
已完结
Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia
29天前
已完结
Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia
29天前
已完结
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