Lv11
40 积分 2022-03-29 加入
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
3小时前
求助中
Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies
11天前
已完结
[Expert consensus on the standardized application of whole exome sequencing technology in diagnosis of genetic disorders]
1个月前
已完结
Idiopathic infantile hypercalcaemia (IIH) resulting from a loss‐of‐function mutation in the CYP24A1 gene in a young high‐performance athlete: A case report with a literature review of adult presentations
2个月前
已完结
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
2个月前
已完结
21羟化酶缺陷导致的先天性肾上腺皮质增生症的实验室诊断共识
2个月前
已完结
Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency
2个月前
已完结
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China
2个月前
已完结
Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia
2个月前
已完结
Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia
2个月前
已完结
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