Lv4
430 积分 2024-02-26 加入
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway
25天前
已完结
Whole exome sequencing of fetal structural anomalies detected by ultrasonography
25天前
已完结
Marfan Syndrome
1个月前
已完结
Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil
1个月前
已完结
Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil
1个月前
已完结
Iris Flocculi Investigated for Familial Thoracic Aortic Aneurysms and Dissections
2个月前
已完结
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
2个月前
已完结
Multimodal optical imaging of iris flocculi in three consecutive generations: a case report
2个月前
已完结
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C
2个月前
已完结
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
2个月前
已完结
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