Lv31
320 积分 2024-10-09 加入
Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients
2个月前
已关闭
Whole-Exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-Organ Failure in Acute Pancreatitis
3个月前
已关闭
Mendelian inheritance revisited: dominance and recessiveness in medical genetics
3个月前
已完结
Novel Genetic Variants Distinguishing Myelin Oligodendrocyte Glycoprotein-IgG-Positive From Myelin Oligodendrocyte Glycoprotein-IgG-Negative Pediatric Acute Disseminated Encephalomyelitis in Northern China
3个月前
已完结
Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila
4个月前
已完结
Toward trustable use of machine learning models of variant effects in the clinic
6个月前
已完结
Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis
7个月前
已完结
Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis
7个月前
已完结
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease
7个月前
已完结
Neurodevelopmental Disorder Caused by Deletion of CHASERR , a lncRNA Gene
8个月前
已完结
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