Lv6
1760 积分 2023-01-30 加入
Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis
7天前
已关闭
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation
14天前
已完结
A relatively common hypomorphic variant in WARS2 causes monogenic disease
14天前
已完结
Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome
1个月前
已完结
SLC44A1::PRKCA fusion-positive glioneuronal tumor without histological and epigenetic features of papillary glioneuronal tumor
1个月前
已完结
Protein Kinase C-alpha Gene Fusions in Dendritic Cell Neurofibroma
1个月前
已完结
Papillary glioneuronal tumor (PGNT) exhibits a characteristic methylation profile and fusions involving PRKCA
1个月前
已完结
Protein Kinase C-alpha Gene Fusions in Dendritic Cell Neurofibroma
1个月前
已完结
Genetic architecture and phenotypic diversity of oocyte and early embryo competence defects in female infertility
1个月前
已完结
Detection of brain somatic variation in epilepsy-associated developmental lesions
2个月前
已完结
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