Lv11
60 积分 2025-05-23 加入
Dysfibrinogenemia—Potential Impact of Genotype on Thrombosis or Bleeding
1小时前
已完结
The revised Ghent nosology for the Marfan syndrome: Table 1
8小时前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
10天前
已完结
Efficacy of ruxolitinib for HAVCR2 mutation‐associated hemophagocytic lymphohistiocytosis and panniculitis manifestations in children
11天前
已完结
Renal stones in two children with two rare etiologies
21天前
已关闭
Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency
21天前
已完结
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#
25天前
已关闭
Ultra-wide-field scanning laser ophthalmoscopy and optical coherence tomography in FEVR: findings and its diagnostic ability
27天前
已完结
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants
27天前
已完结
Characterization of ARB in twins: in-trans frameshift and deep intronic BEST1 variants
28天前
已关闭
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