Lv4
650 积分 2022-11-01 加入
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
22小时前
待确认
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]
2天前
已完结
Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia
12天前
已完结
[Mutation analysis of two pedigrees with suspected oculocutaneous albinism]
16天前
已完结
Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy
19天前
已完结
Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants
20天前
已完结
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia
1个月前
已完结
Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing
1个月前
已完结
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
1个月前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993–2020
1个月前
已完结
皖公网安备34019202002308
