Lv4
440 积分 2024-02-26 加入
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D
6天前
已关闭
Congenital heart defects in the recurrent 2q13 deletion syndrome
21天前
已完结
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway
1个月前
已完结
Whole exome sequencing of fetal structural anomalies detected by ultrasonography
1个月前
已完结
Marfan Syndrome
2个月前
已完结
Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil
2个月前
已完结
Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil
2个月前
已完结
Iris Flocculi Investigated for Familial Thoracic Aortic Aneurysms and Dissections
3个月前
已完结
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
3个月前
已完结
Multimodal optical imaging of iris flocculi in three consecutive generations: a case report
3个月前
已完结
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