Lv11
40 积分 2025-08-26 加入
CBL syndrome presenting with severe EBV infection and panuveitis masquerade
7小时前
待确认
Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders
3天前
已完结
Expanding the spectrum of genetic causes of DNA-specific exonuclease TREX1 variants in thrombotic microangiopathy
1个月前
已完结
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications
1个月前
已完结
Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations
1个月前
已完结
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals
2个月前
已完结
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients
3个月前
已完结
Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients
3个月前
已关闭
SMC1A epilepsy syndrome: clinical data from a large international cohort
3个月前
已完结
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
3个月前
已完结
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