Lv22
108 积分 2024-05-17 加入
Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency
11小时前
求助中
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
6天前
已完结
Atypical Ophthalmological Manifestations of Claes-Jensen Syndrome Without Intellectual Disability: A Case Report
1个月前
已完结
The role of exome sequencing in newborn screening for inborn errors of metabolism
1个月前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
1个月前
已完结
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
2个月前
已完结
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
2个月前
已完结
Clinical findings and mutational spectrum of neurofibromatosis type 1 patients in a single center of south part of Turkey
2个月前
已关闭
Do anti‐CD36 antibodies cause only fetal/neonatal alloimmune thrombocytopenia?
4个月前
已关闭
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
4个月前
已完结
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