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98 积分 2024-04-22 加入
Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1
6天前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
9天前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
9天前
已完结
[A report of clinical characteristics of 2 Chinese pedigrees with haploinsufficiency of A20 and literature review]
20天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
2个月前
已完结
ADAMTS13 deficiency exacerbates neuroinflammation by targeting matrix metalloproteinase-9 in ischemic brain injury
2个月前
已完结
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project
2个月前
已关闭
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project
2个月前
已完结
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism
3个月前
已完结
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