Lv61
1740 积分 2022-12-28 加入
Bidirectional disruption of GNAS transcripts causes broad methylation defects in pseudohypoparathyroidism type 1B
11天前
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Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome
19天前
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Spatially resolved transcriptomic analysis of the adult human prostate
27天前
已完结
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications
1个月前
已完结
The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10
1个月前
已完结
The same genotype gives rise to a spectrum of disorders
1个月前
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Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants
2个月前
已完结
Reply: Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants
2个月前
已完结
TAX1BP3 Causes TRPV4-Mediated Autosomal Recessive Arrhythmogenic Cardiomyopathy
2个月前
已完结
Deep brain stimulation in progressive myoclonus epilepsy with SERPINI1 mutation
3个月前
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