Lv5
1370 积分 2025-05-17 加入
Increased Nuchal Translucency Without Aneuploidy in a Fetus: Abnormal Postnatal Radiograph and a Novel Mutation
8天前
已完结
Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum
8天前
已关闭
Chondrodysplasia Punctata: A Diagnostic Clue for Zellweger Spectrum Disorder
11天前
已完结
Increased Nuchal Translucency Without Aneuploidy in a Fetus: Abnormal Postnatal Radiograph and a Novel Mutation
11天前
已完结
Expanded targeted preconception screening panel in Israel: findings and insights
11天前
已完结
Updates in endoscopic management of ampullary and duodenal adenomas
15天前
已完结
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s
25天前
已完结
Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype
30天前
已完结
Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91
1个月前
已关闭
Genetic architecture of thoracic aortic dissection in the female population
3个月前
已完结