Lv1
44 积分 2024-01-31 加入
Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation
3个月前
已完结
Two novel GCK mutations in Chinese patients with maturity-onset diabetes of the young
4个月前
已完结
Transcriptome integration analysis of shared biomarkers and common immune mechanisms in SLE and PSO
6个月前
已完结
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
7个月前
已完结
Optimizing Surgical Management of Craniofacial and Orbital Fibrous Dysplasia: A Multi‐Center Retrospective Study
8个月前
已完结
The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes
8个月前
已完结
Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor
9个月前
已完结
46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene
10个月前
已关闭
Mutations in the Desert hedgehog (DHH) Gene in Patients with 46,XY Complete Pure Gonadal Dysgenesis
10个月前
已完结
3‐Hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency: Initial presentation in a young adult
11个月前
已完结
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