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Marios Tomazou

the cyprus institute of neurology and genetics
H指数:12
被引数:404

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Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing

通过全外显子测序发现先天性及/或发育异常患者的致病性遗传变异

Genes
IF2.8
2026-07-260
OAAI
Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing

流产妊娠中的胎儿遗传因素:来自一项Meta分析的研究见解与全外显子组测序的有效性

2025-02-250
OA
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
2025-02-130
OAAI
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing

通过靶向下一代测序分析游离胎儿DNA,对β-地中海贫血高风险妊娠进行父系遗传的非侵入性确定

2025-01-100
OA
Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights
2022-04-071
OAAI
Multi-omics data integration and network-based analysis drives a multiplex drug repurposing approach to a shortlist of candidate drugs against COVID-19
2021-05-0119
OAAI