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

Aminoacylase 1 deficiency: case report on three affected siblings

氨酰酶1缺乏症:三名患病兄弟姐妹的病例报告

Smolka, Vratislav; Friedecky, David; Kolarova, Jana; Tkacik, Oksana; Foltenova, Hana; Bekarek, Vojtech; Vrtel, Petr; Srovnal, Josef

High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic

高通量测序单倍型分析表明,LRRK2基因可能是捷克共和国东南部摩拉维亚地区地方性帕金森病的一个潜在风险因素

Kolarikova, Kristyna; Vodicka, Radek; Vrtel, Radek; Stellmachova, Julia; Prochazka, Martin; Mensikova, Katerina; Bartonikova, Tereza; Furst, Tomas; Kanovsky, Petr; Geryk, Jan

Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing

使用高通量靶向测序检测抗凝血酶、蛋白 C 和蛋白 S 缺乏症中的未知和罕见致病变异

Petr Vrtel, Ludek Slavik, Radek Vodicka, Julia Stellmachova, Martin Prochazka, Jana Prochazkova, Jana Ulehlova, Peter Rohon, Tomas Simurda, Jan Stasko, Ivana Martinkova, Radek Vrtel

Risk Minimization of Hemolytic Disease of the Fetus and Newborn Using Droplet Digital PCR Method for Accurate Fetal Genotype Assessment of RHD, KEL, and RHCE from Cell-Free Fetal DNA of Maternal Plasma

利用液滴数字PCR法对母体血浆游离胎儿DNA中的RHD、KEL和RHCE进行精确的胎儿基因型评估,以最大限度地降低胎儿和新生儿溶血病的风险。

Vodicka, Radek; Bohmova, Jana; Holuskova, Iva; Krejcirikova, Eva; Prochazka, Martin; Vrtel, Radek

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

对1333名捷克卵巢癌患者进行多基因panel种系检测

Lhotova, Klara; Stolarova, Lenka; Zemankova, Petra; Vocka, Michal; Janatova, Marketa; Borecka, Marianna; Cerna, Marta; Jelinkova, Sandra; Kral, Jan; Volkova, Zuzana; Urbanova, Marketa; Kleiblova, Petra; Machackova, Eva; Foretova, Lenka; Hazova, Jana; Vasickova, Petra; Lhota, Filip; Koudova, Monika; Cerna, Leona; Tavandzis, Spiros; Indrakova, Jana; Hruskova, Lucie; Kosarova, Marcela; Vrtel, Radek; Stranecky, Viktor; Kmoch, Stanislav; Zikan, Michal; Macurek, Libor; Kleibl, Zdenek; Soukupova, Jana

Modulation of the E2F1-driven cancer cell fate by the DNA damage response machinery and potential novel E2F1 targets in osteosarcomas

DNA损伤反应机制对E2F1驱动的癌细胞命运的调控以及骨肉瘤中潜在的新型E2F1靶点

Liontos, Michalis; Niforou, Katerina; Velimezi, Georgia; Vougas, Konstantinos; Evangelou, Konstantinos; Apostolopoulou, Kalliopi; Vrtel, Radek; Damalas, Alexandros; Kontovazenitis, Panayiotis; Kotsinas, Athanassios; Zoumpourlis, Vassilis; Tsangaris, George Th; Kittas, Christos; Ginsberg, Doron; Halazonetis, Thanos D; Bartek, Jiri; Gorgoulis, Vassilis G