Lv11
60 积分 2025-04-17 加入
Molecular Management of Multifocal Atrial Tachycardia in Noonan’s Syndrome With MEK1/2 Inhibitor Trametinib
2小时前
已完结
Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C > T) in RAF1 gene
2小时前
已完结
Germline gain-of-function mutations in RAF1 cause Noonan syndrome
2小时前
待确认
Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS)
15天前
已完结
Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway
1个月前
已完结
Clinical overview on RASopathies
1个月前
已完结
RASopathies. Part I: Genetics and therapeutic considerations
1个月前
已完结
Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature
1个月前
已完结
A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21
2个月前
已完结
Cardiovascular Defects as the Initial Presentation in Two Prenatal Cases of De Novo Heterozygous PBX1 Variants
5个月前
已完结