Lv1
10 积分 2022-09-05 加入
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
1天前
求助中
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
2个月前
已完结
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
2个月前
已完结
HiFi long-read genomes for difficult-to-detect clinically relevant variants
3个月前
已完结
A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease
3个月前
已完结
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
3个月前
已完结
A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease
3个月前
已完结
A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease
3个月前
已关闭
HiFi long-read genomes for difficult-to-detect, clinically relevant variants
3个月前
已关闭
Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases
5个月前
已完结
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