Lv1
86 积分 2024-05-28 加入
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease
1个月前
已完结
Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders
2个月前
已完结
Hypoparathyroidism Associated with Benign Thyroid Nodules inDiGeorge-like Syndrome: A Rare Case Report and Literature Review
2个月前
已完结
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease
3个月前
已完结
A novel duplication of chromosome (13)(q14.1q21.3) in a patient with mental retardation and microcephaly
3个月前
已关闭
A novel duplication of chromosome (13)(q14.1q21.3) in a patient with mental retardation and microcephaly
3个月前
已关闭
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
4个月前
已完结
[Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency]
6个月前
已完结
Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency
6个月前
已关闭
beta-Thalassemia mutation at -90C-->T impairs the interaction of the proximal CACCC box with both erythroid and nonerythroid factors [letter]
7个月前
已关闭
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