Lv11
58 积分 2024-12-02 加入
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy
4小时前
待确认
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
16天前
已完结
4p中间缺失致全面发育迟缓伴重度肌张力低下1例
1个月前
已完结
[Expert consensus on clinical genetic counseling of α-thalassemia gene analysis]
1个月前
已完结
Sitosterolemia misdiagnosed as homozygous familial hypercholesterolemia: A diagnostic challenge
1个月前
已完结
Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort study
1个月前
已完结
ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia
1个月前
已完结
[Phenotypes and ATP7B gene variants in 316 children with Wilson disease]
1个月前
已完结
A report of whole-genome sequencing in neurologic Wilson's disease
1个月前
已完结
Abnormal hemoglobin phenotypes in carriers of mild anemia in Latin America
1个月前
已完结
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