Lv1
48 积分 2022-03-11 加入
MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations
8天前
已完结
Novel de novo ZNF148 truncating variant causing autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability
23天前
已完结
Leukoencephalopathy with calcifications and cysts: A case report with literature review
1个月前
已完结
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
2个月前
已完结
Benign proximal tubular albuminuria due to AMN mutation: A challenging presentation of Imerslund-Gräsbeck syndrome
3个月前
已完结
Why has plasma exchange failed in TRACK syndrome? Lessons from a new variant of the atypical hemolytic uremic syndrome
3个月前
已完结
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2
3个月前
已完结
A Case of Cardiac Sarcoidosis Presenting with a Low-level Elevation of Troponin: Case Report and Literature Review
3个月前
已完结
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
3个月前
已完结
The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
4个月前
已完结
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