Lv21
130 积分 2023-04-14 加入
Sex differences in clinical and genetic determinants of levodopa peak-dose dyskinesias in Parkinson disease: an exploratory study
59分钟前
待确认
Reanalysis of whole genome sequencing ends a diagnostic Odyssey of neurodevelopmental disorders caused by RNU4-2 variants
1个月前
已完结
A new era for the dark genome
1个月前
已关闭
ReNU syndrome – a newly discovered prevalent neurodevelopmental disorder
1个月前
已完结
RNU4-2 variants cause neurodevelopmental disorders
1个月前
已完结
Central precocious puberty: a review of diagnosis, treatment, and outcomes
2个月前
已完结
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort
3个月前
已完结
Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome
3个月前
已完结
Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1)
4个月前
已完结
Targeted RNAseq from patients’ urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept
4个月前
已完结
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