Lv2
130 积分 2024-10-10 加入
[Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa]
6天前
已完结
A novel CHD3 variant in a patient with central precocious puberty: Expanded phenotype of Snijders Blok‐Campeau syndrome?
11天前
已完结
[Immunophenotyping and molecular genetic analysis of diffuse large B-cell lymphoma]
13天前
已关闭
[Immunophenotyping and molecular genetic analysis of diffuse large B-cell lymphoma]
13天前
已关闭
[Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg]
20天前
已关闭
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia
26天前
已完结
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
26天前
已完结
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations
27天前
已关闭
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy
1个月前
已关闭
IL-2-mediated hepatotoxicity: knowledge gap identification based on the irAOP concept
1个月前
已完结
皖公网安备34019202002308
