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

Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the ADAR1 c.3019G>A Variant

艾卡迪-古蒂埃综合征6型:病例报告和结构预测支持ADAR1 c.3019G>A变异的显性负效应

Turan, Katerina; Pokorna, Petra; Rihova, Kamila; Kubatova, Jana; Kozelkova, Katerina; Hlouskova, Eliska; Danhofer, Pavlina; Jabandziev, Petr; Damborsky, Jiri; Demlova, Regina; Slaby, Ondrej; Slaba, Katerina

Assisted Reproduction Therapy in Patients with Multiple Sclerosis: Narrative Review and Practical Recommendations

多发性硬化症患者的辅助生殖治疗:叙述性综述和实用建议

Mekiňová, Lenka; Šrotová, Iva; Hanáková, Petra; Danhofer, Pavlína; Hudeček, Robert; Ješeta, Michal

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

捷克先天性肌病患者的遗传和结构变异

Zídková, Jana; Lauerová, Barbora; Mensová, Lívie; Kramářová, Tereza; Kopčilová, Johana; Réblová, Kamila; Soukup Vodičková, Magdaléna; Hujňáková, Martina; Haberlová, Jana; Rohlenová, Marie; Mazanec, Radim; Šoukalová, Jana; Gaillyová, Renata; Vyhnálková, Emílie; Balaščaková, Miroslava; Danhofer, Pavlína; Juříková, Lenka; Grečmalová, Dagmar; Gřegořová, Andrea; Plevová, Pavlína; Langová, Martina; Honzík, Tomáš; Magner, Martin; Klincová, Martina; Solařová, Pavla; Šenkeříková, Mária; Fajkusová, Lenka

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases

全外显子组测序在捷克儿科罕见病和未确诊疾病患者中的诊断效能和临床应用价值

Slaba, Katerina; Pokorna, Petra; Jugas, Robin; Palova, Hana; Prochazkova, Dagmar; Aulicka, Stefania; Spanelova, Klara; Danhofer, Pavlina; Horak, Ondrej; Tuckova, Jana; Kleiblova, Petra; Gaillyova, Renata; Hrunka, Matej; Jouza, Martin; Pinkova, Blanka; Papez, Jan; Konecna, Petra; Zidkova, Jana; Stourac, Petr; Sterba, Jaroslav; Demlova, Regina; Demlova, Eva; Jabandziev, Petr; Slaby, Ondrej

Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment

杜氏肌营养不良症患者的生活质量下降与神经功能和心脏功能障碍有关。

Juříková, Lenka; Masárová, Lucia; Panovský, Roman; Pešl, Martin; Revendová, Kamila Žondra; Volný, Ondřej; Feitová, Věra; Holeček, Tomaš; Kincl, Vladimír; Danhofer, Pavlína; Voháňka, Stanislav; Haberlová, Jana; Podolská, Karolína

The impact of the COVID-19 pandemic on stress and coping in parents of children with Autism Spectrum Disorder

新冠疫情对自闭症谱系障碍儿童父母的压力和应对方式的影响

Knedlíková, Lenka; Dědková, Lenka; Kolář, Senad; Česká, Katarína; Vyhnalová, Martina; Stroupková, Lucie; Pejčochová, Jana; Pavel, Theiner; Lacko, David; Horák, Ondřej; Ošlejšková, Hana; Danhofer, Pavlína

Cerebrovascular Complications of COVID-19 Disease in Children: A Single-Center Case Series

儿童 COVID-19 疾病的脑血管并发症:单中心病例系列研究

Španělová, Klára; Skříšovská, Tamara; Mužlayová, Patrícia; Horák, Ondřej; Šenkyřík, Jan; Seehofnerová, Anna; Homola, Lukáš; Klučka, Jozef; Blatný, Jan; Ošlejšková, Hana; Danhofer, Pavlína

Causes of Intensive Care Unit Admissions in Children with SARS-CoV-2: A Single-Centre Observational Study

儿童SARS-CoV-2感染者入住重症监护室的原因:一项单中心观察性研究

Homola, Lukáš; Klučka, Jozef; Fabián, Dominik; Štourač, Petr; Šikula, Josef; Vávrová, Eva; Jeřábková, Barbora; Sihlovec, Martin; Musil, Václav; Španělová, Klára; Mužlayová, Patricia; Danhofer, Pavlína

Brittle Biballism-Dystonia in a Pediatric Patient with GNAO1 Mutation Managed Using Pallidal Deep Brain Stimulation

采用苍白球深部脑刺激治疗GNAO1基因突变患儿的脆性双侧肢体运动障碍-肌张力障碍

Danhofer, Pavlína; Zech, Michael; Bálintová, Zdenka; Baláž, Marek; Jech, Robert; Ošlejšková, Hana

Oxygen conditions oscillating between hypoxia and hyperoxia induce different effects in the pulmonary endothelium compared to constant oxygen conditions

与恒定氧条件相比,在缺氧和高氧之间振荡的氧气条件会对肺内皮产生不同的影响

Peter Wohlrab, Michael Johann Danhofer, Wolfgang Schaubmayr, Akos Tiboldi, Katharina Krenn, Klaus Markstaller, Roman Ullrich, Klaus Ulrich Klein, Verena Tretter