Lv1
70 积分 2023-02-16 加入
Implementation of Newborn Screening for Mucopolysaccharidosis Type IVA and Long-Term Monitoring in Taiwan
1个月前
已关闭
[Clinical and genetic analysis of tyrosine hydroxylase deficiency of six cases]
1个月前
已完结
Two siblings with uncombable hair syndrome: A new pathogenic variant
2个月前
已完结
[Study of a CADASIL family with migraine as the presenting symptom]
3个月前
已完结
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population
3个月前
已完结
Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure
4个月前
已完结
Independent Mutations at Codon 3500 of the Apolipoprotein B Gene Are Associated With Hyperlipidemia
4个月前
已完结
Identification and haplotype analysis of apolipoprotein B-100 Arg3500→Trp mutation in hyperlipidemic Chinese
4个月前
已完结
Compound Heterozygous Familial Hypercholesterolemia and Familial Defective Apolipoprotein B-100 Produce Exaggerated Hypercholesterolemia
4个月前
已完结
KBG syndrome: An Australian experience
4个月前
已完结
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