Lv3
228 积分 2024-05-17 加入
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
11天前
已关闭
Relationship between phenotypic features in Loeys-Dietz syndrome and the presence of intracranial aneurysms
18天前
已完结
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
1个月前
已完结
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies
1个月前
已完结
A Case of Teunissen-Cremers Syndrome
1个月前
已关闭
Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency
1个月前
已关闭
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
1个月前
已完结
Atypical Ophthalmological Manifestations of Claes-Jensen Syndrome Without Intellectual Disability: A Case Report
2个月前
已完结
The role of exome sequencing in newborn screening for inborn errors of metabolism
2个月前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
3个月前
已完结
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