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150 积分 2023-04-14 加入
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort
1天前
待确认
Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome
1天前
已完结
Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1)
1个月前
已完结
Targeted RNAseq from patients’ urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept
1个月前
已完结
Decoding splicing complexity: integrated genomic analysis reveals two novel pathogenic variants in Chinese dystrophinopathy pedigrees
1个月前
已完结
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
2个月前
已完结
Decoding splicing complexity: integrated genomic analysis reveals two novel pathogenic variants in Chinese dystrophinopathy pedigrees
2个月前
已完结
LONG-RANGE PCR AS A TOOL FOR EVALUATING MITOCHONDRIAL DNA DAMAGE: PRINCIPLES, BENEFITS, AND LIMITATIONS OF THE TECHNIQUE
2个月前
已完结
HLA Genotyping in Romanian Adult Patients with Celiac Disease, their First-degree Relatives and Healthy Persons
2个月前
已完结
Identification of Hepatic-like EPO as a Cause of Polycythemia
4个月前
已完结
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