Lv22
170 积分 2024-01-30 加入
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk
1天前
待确认
De novo Xq21.31-q21.32 duplication in intellectual disability: a new report
1天前
已完结
Identification of MYO6 copy number variation associated with cochlear aplasia by targeted sequencing
12天前
已完结
GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect
14天前
已完结
Clinical utility of the X-chromosome array
17天前
已完结
A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings
18天前
已完结
Neonatal detection of 5p13.2 duplication and delineation of the phenotype
26天前
已完结
1p31.1 microdeletion including only NEGR1 gene in two patients
29天前
已完结
Cardiac ryanodine receptor calcium release deficiency syndrome
1个月前
已完结