Lv2
114 积分 2024-04-22 加入
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia]
2天前
已完结
New Loss-of-Function Mutations in PCSK9 Reduce Plasma LDL Cholesterol
2天前
已完结
Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects
23天前
已关闭
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech
1个月前
已完结
A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants
1个月前
已完结
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
1个月前
已完结
Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig
1个月前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy
2个月前
已完结
DNAH14 variants are associated with neurodevelopmental disorders
2个月前
已完结
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