Lv1
48 积分 2024-01-31 加入
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain
21天前
已完结
A novel mutation in hERG gene associated with azithromycin-induced acquired long QT syndrome
1个月前
已完结
Identification of Novel and Recurrent FBN1 Gene Mutations in Two Unrelated Turkish Families with Isolated Ectopia Lentis: A Case Report with Insights from a Literature Review
1个月前
已关闭
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)
1个月前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
1个月前
已完结
Application of chromosome microarray analysis for the delineation of pathogenesis for fetal ventriculomegaly
1个月前
已完结
Application of chromosome microarray analysis for the delineation of pathogenesis for fetal ventriculomegaly
1个月前
已关闭
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression
3个月前
已完结
Several mutations in the melanocortin 4 receptor gene are associated with obesity in Chinese children and adolescents
4个月前
已完结
Fetal phenotypes of Mendelian disorders: A descriptive study from India
4个月前
已完结
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