Lv52
1070 积分 2022-04-29 加入
Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort
5天前
已完结
[Gene mutations and clinical manifestations in children with glycogen storage disease type Ib]
20天前
已完结
Newborn screening for isovaleric acidemia in Quanzhou, China
1个月前
已完结
Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability
1个月前
已完结
Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis
2个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
2个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
2个月前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
2个月前
已完结
Determining the genetic contribution in patients with non-syndromic ascending thoracic aortic aneurysms: Correlation with findings from computational pathology
2个月前
已关闭
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
2个月前
已完结
The Human Affectome
17天前
已采纳
Comparison of patient-reported achievements of goals and core outcomes with delayed breast reconstruction in irradiated patients: latissimus dorsi with an implant versus DIEP
1个月前
已采纳
Evolution of GCMC's Spent Catalyst Operations
1个月前
已采纳
Research on the Business Model and Consumer Behavior of Bubble Mart
1个月前
已采纳
Nb 3d and O 1s core levels and chemical bonding in niobates
5个月前
已采纳
Biofilms: A cause for the development of cancer: A review
5个月前
已采纳
The work input to an unsaturated granular material
5个月前
已采纳
Efficient biosynthesis of transglutaminase in Streptomyces mobaraensis via systematic engineering strategies
5个月前
已采纳
Cloud manufacturing: Strategic vision and state-of-the-art
5个月前
已采纳
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