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ccalvintan
Lv6
1777 积分
2021-04-29 加入
遗传领域,NGS,生信,儿童肿瘤
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Large Scale Genomic Investigation of Pediatric Cholestasis Reveals a Novel Hepatorenal Ciliopathy Caused by PSKH1 Mutations
2天前
已完结
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient
3天前
已完结
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand
3天前
已完结
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid
5天前
已完结
UBTFhaploinsufficiency associated withUBTF-related global developmental delay and distinctive facial features without neuroregression
6天前
已完结
HDR syndrome: Large cohort and systematic review
9天前
已完结
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
9天前
已完结
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome
9天前
已完结
Multifunctional histone variants in genome function
9天前
已完结
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum
9天前
已完结
没有进行任何应助
标题错误
9天前
标题错误,doi错误
9天前
这个是natrue reviews disease primers的特点,同一个标题会有一个primer一个primeview,后者等于预览,所以这个提供的其实是一个预览图,所以跟正文的doi不一样
1个月前
doi错误,需要 doi: 10.1038/s41572-024-00546-6,提供的是doi: 10.1038/s41572-024-00553-7
1个月前
标题错误、doi错误
1个月前
感谢
1个月前
doi错误
1个月前
感谢
2个月前
doi错误
2个月前
doi错误
2个月前
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