Lv4
618 积分 2025-04-14 加入
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy
15小时前
已完结
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort
16小时前
已完结
Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients
23小时前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1天前
已完结
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
6天前
已完结
Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1
6天前
已完结
Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol
6天前
已完结
Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism
6天前
已完结
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II
7天前
已完结
Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran
7天前
已完结
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