Lv4
418 积分 2024-02-20 加入
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
18小时前
待确认
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
20小时前
求助中
Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis
5天前
已完结
Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis
5天前
已完结
Increase in diagnostic yield achieved for 174 whole-exome sequencing cases reanalyzed 1–2 years after initial analysis
5天前
已完结
Human SLE variant NCF1-R90H promotes kidney damage and murine lupus through enhanced Tfh2 responses induced by defective efferocytosis of macrophages
12天前
已完结
A tandem duplication of exon 42 of theDMDgene is a likely benign variant
16天前
已完结
Variants of Unknown Significance (VUS) in Maturity-Onset Diabetes of the Young (MODY): High Rate of Conundrum Resolution via VUS Reanalysis
23天前
已关闭
Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department
23天前
已完结
Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis
23天前
已完结
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