Lv21
178 积分 2024-03-06 加入
Resolving structural variations missed by short-read sequencing uncovers their pathogenicity
12天前
已关闭
[Prenatal diagnosis of partial deletion of NRXN1 gene with combined CNV-seq and qPCR assays]
13天前
已完结
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease
25天前
已完结
De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III)
1个月前
已完结
[Hyperuricemia and gene mutations: a case report]
1个月前
已关闭
A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1
1个月前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
1个月前
已关闭
Tissue specific trisomy 15 mosaicism associated with urogenital malformations
1个月前
已完结
ANKS1B is a potential candidate gene for short stature and failure to thrive in children
2个月前
已完结
Crk Haploinsufficiency Is Associated with Intrauterine Growth Retardation and Severe Postnatal Growth Failure
2个月前
已关闭
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