Lv11
50 积分 2024-02-23 加入
Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery
6小时前
已完结
Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1
2个月前
已关闭
Genetic and clinical profile of patients with hypophosphatemic rickets
2个月前
已完结
Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10
2个月前
已完结
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
2个月前
已完结
[Clinical features of dilated cardiomyopathy-like hypertrophic cardiomyopathy caused by a 13261 G > A mutation in cardiac myosin-binding protein C gene]
8个月前
已完结
The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
8个月前
已完结
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
9个月前
已完结
Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum
9个月前
已完结
[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia]
9个月前
已完结
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