Lv2
120 积分 2025-05-09 加入
A molecular screening strategy based on β-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy
14小时前
已完结
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease
15小时前
已关闭
Short- and Long-Term Outcome of Patients with Pseudo-Vitamin D Deficiency Rickets Treated with Calcitriol
19小时前
已完结
The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A
19小时前
已完结
Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients
20小时前
已完结
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency
2天前
已完结
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency
2天前
已完结
Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia
2天前
已完结
A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect
2天前
已完结
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria
2天前
已完结
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