Lv3
260 积分 2025-04-19 加入
Gene Panel Versus Whole Exome Sequencing for Fetal Anomalies
3天前
已完结
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype
4天前
已完结
Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis
4天前
已完结
Hereditary cataract associated with a novel variant in WFS1
7天前
已关闭
Biochemical genetic testing for congenital disorders of glycosylation after sequencing produces equivocal results
7天前
已完结
Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children
10天前
已完结
Mutated G proteins as drug targets
10天前
已完结
Genotype correlates with clinical course and outcome of children with tight junction protein 2 (TJP2) deficiency–related cholestasis
12天前
已完结
Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases
17天前
已关闭
Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature
19天前
已完结
皖公网安备34019202002308
