Lv2
150 积分 2026-01-16 加入
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
29天前
已完结
Skraban-Deardorff Syndrome in an Indian Child - A Very Rare Pathogenic Base Pair Deletion in WDR26 Gene
1个月前
已完结
A further case of Skraban-Deardorff syndrome and review of the literature
1个月前
已完结
Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency
1个月前
已完结
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
1个月前
已完结
Advances in monogenic female infertility
2个月前
已完结
Toward clinical long-read genome sequencing for rare diseases
2个月前
已完结
Autosomal Dominant Polycystic Kidney Disease
2个月前
已完结
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1
4个月前
已完结
Comprehensive Assays for Incontinentia Pigmenti Using Long-Read Sequencing and its Application in Preimplantation Genetic Testing
4个月前
已完结
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