Lv41
640 积分 2023-11-07 加入
Review of Monogenic Diabetes: Clinical Features and Precision Medicine in Genetic Forms of Diabetes
29天前
已完结
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease
3个月前
已完结
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
7个月前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
9个月前
已完结
Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families
9个月前
已完结
Amniocentesis in pregnancies at or beyond 24 weeks: An international multicenter study
10个月前
已完结
Fetal agenesis of the corpus callosum: Clinical and genetic analysis in a series of 40 patients
11个月前
已完结
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound
1年前
已完结
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
1年前
已完结
Mutation of serine/threonine protein kinase 36 ( STK36 ) causes primary ciliary dyskinesia with a central pair defect
1年前
已完结
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