Lv0
0 积分 2023-06-11 加入
COL1 ‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
4天前
已完结
Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta
8天前
已完结
The Molecular Defect Leading to Fabry Disease: Structure of Human α-Galactosidase
1个月前
已完结
[Chinese expert consensus statement on the classification and interpretation of variants in genes associated with common inherited cardiovascular diseases]
1个月前
已完结
Gene-echocardiography: refining genotype–phenotype correlations in hypertrophic cardiomyopathy
1个月前
已完结
[Comparison and interpretation of etiological diagnosis guidelines for genetic deafness between China and the United States]
1个月前
已完结
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
1个月前
已完结
[Chinese expert consensus on pelvic floor biofeedback for anorectal dysfunction (2024 edition)]
2个月前
已完结
Amplicon‐based high‐throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
2个月前
已完结
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
2个月前
已完结
皖公网安备34019202002308
