日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing

端粒长度作为无创产前检测中预测胎儿DNA片段含量的生物标志物

Holesova, Zuzana; Budis, Jaroslav; Kucharik, Marcel; Gazdarica, Juraj; Carska, Daria; Minarik, Gabriel; Hyblova, Michaela; Szemes, Tomas

Comparison of the ABC and ACMG systems for variant classification

ABC系统与ACMG系统在变异分类中的比较

Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Žukauskaitė, Gabrielė; Sansovic, Ivona; Brea-Fernández, Alejandro J; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe; Wright, William; Markovic, Milica Keckarevic; Lildballe, Dorte L; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena; Lubieniecka, Joanna M; Stojiljkovic, Maja; Buisine, Marie-Pierre; Haukanes, Bjørn Ivar; Lorans, Marie; Roomere, Hanno; Petit, François M; Haanpää, Maria K; Beneteau, Claire; Pérez, Belén; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I; Stephanou, Coralea; Sjursen, Wenche; Maver, Aleš; Rouzier, Cécile; Chirita-Emandi, Adela; Gonçalves, João; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T; Laner, Andreas

Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations

了解遗传变异:通过欧洲人群中的无创产前检测探索大规模拷贝数变异

Holesova, Zuzana; Pös, Ondrej; Gazdarica, Juraj; Kucharik, Marcel; Budis, Jaroslav; Hyblova, Michaela; Minarik, Gabriel; Szemes, Tomas

Analysis of transcriptomics data from COVID-19 patients: a pilot research

新冠肺炎患者转录组学数据分析:一项初步研究

Hadzega, Dominik; Babisova, Klaudia; Hyblova, Michaela; Janostiakova, Nikola; Sabaka, Peter; Janega, Pavol; Minarik, Gabriel

Insights into non-informative results from non-invasive prenatal screening through gestational age, maternal BMI, and age analyses

通过孕周、孕妇体重指数和年龄分析,深入了解无创产前筛查中无信息结果的原因

Gazdarica, Juraj; Forgacova, Natalia; Sladecek, Tomas; Kucharik, Marcel; Budis, Jaroslav; Hyblova, Michaela; Sekelska, Martina; Gnip, Andrej; Minarik, Gabriel; Szemes, Tomas

Metatranscriptome Analysis of Nasopharyngeal Swabs across the Varying Severity of COVID-19 Disease Demonstrated Unprecedented Species Diversity

对不同严重程度的 COVID-19 患者鼻咽拭子进行宏转录组分析,揭示了前所未有的物种多样性

Hyblova, Michaela; Hadzega, Dominik; Babisova, Klaudia; Krumpolec, Patrik; Gnip, Andrej; Sabaka, Peter; Lassan, Stefan; Minarik, Gabriel

Long COVID Complicated by Fatal Cytomegalovirus and Aspergillus Infection of the Lungs: An Autopsy Case Report

新冠长期症状并发致命性巨细胞病毒和曲霉菌肺部感染:一例尸检病例报告

Krivosikova, Lucia; Kuracinova, Tereza; Martanovic, Peter; Hyblova, Michaela; Kaluzay, Jozef; Uhrinova, Alexandra; Janega, Pavol; Babal, Pavel

Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report

扩张型心肌病是ARV1相关表型的一部分:病例报告

Karabinos, Anton; Hyblova, Michaela; Eckertova, Miroslava; Tomkova, Erika; Schwartzova, Drahomira; Luckanicova, Nikoleta; Magyarova, Gabriela; Minarik, Gabriel

Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles

非致病性前突变范围强直性肌营养不良症2型等位基因的特征分析

Radvanszky, Jan; Hyblova, Michaela; Radvanska, Eva; Spalek, Peter; Valachova, Alica; Magyarova, Gabriela; Bognar, Csaba; Polak, Emil; Szemes, Tomas; Kadasi, Ludevit

Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions

低覆盖率基因组测序的无创产前检测(NIPT):筛查染色体微缺失的检测限

Kucharik, Marcel; Gnip, Andrej; Hyblova, Michaela; Budis, Jaroslav; Strieskova, Lucia; Harsanyova, Maria; Pös, Ondrej; Kubiritova, Zuzana; Radvanszky, Jan; Minarik, Gabriel; Szemes, Tomas