Lv42
560 积分 2023-11-07 加入
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
2个月前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
3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
3个月前
已完结
Amniocentesis in pregnancies at or beyond 24 weeks: An international multicenter study
4个月前
已完结
Fetal agenesis of the corpus callosum: Clinical and genetic analysis in a series of 40 patients
5个月前
已完结
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound
8个月前
已完结
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
8个月前
已完结
Mutation of serine/threonine protein kinase 36 ( STK36 ) causes primary ciliary dyskinesia with a central pair defect
9个月前
已完结
A Novel Neuroimaging Phenotype in the X-Linked Intellectual Disability with a Missense Mutation of CNKSR2 Gene
9个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases
10个月前
已完结
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