Lv4
500 积分 2021-06-27 加入
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy
2天前
已完结
Phenotypic impact of genomic structural variation: insights from and for human disease
23天前
已完结
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing
1个月前
已完结
CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing
3个月前
已关闭
CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing
3个月前
已关闭
Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome
3个月前
已完结
Small nuclear RNA genes in Mendelian disorders
4个月前
已完结
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era
4个月前
已完结
Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey
4个月前
已完结
Principles Governing Contact of Physicians with the Public Science and Cultism
4个月前
已关闭
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