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

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy

SAXO6基因的功能缺失变异会导致迟发性视网膜营养不良,该基因编码光感受器纤毛的微管内层蛋白。

Moye, Abigail R; McCafferty, Caitlyn L; Lin, Siying; Han, Ji Hoon; Dudakova, Lubica; Rodenburg, Kim; Szabó, Viktória; Nagy, Zoltán Zsolt; Zur, Dinah; Vajter, Marie; Kousal, Bohdan; Moulin, Alexandre P; Graff-Meyer, Alexandra; Roosing, Susanne; Mahroo, Omar A; Arno, Gavin; Webster, Andrew R; Ben-Yosef, Tamar; Liskova, Petra; Engel, Benjamin D; Zobor, Ditta; Quinodoz, Mathieu; Rivolta, Carlo

Sensing of Organic Vapors with Plasmonic Distributed Bragg Reflectors

利用等离子体分布式布拉格反射器检测有机蒸汽

Krtouš, Zdeněk; Polonskyi, Oleksandr; Pleskunov, Pavel; Cieslar, Miroslav; Baloukas, Bill; Martinu, Ludvik; Kousal, Jaroslav

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation

致病性TIMP3变异体及与新型p.(Tyr152Cys)突变相关的两个捷克索尔斯比眼底营养不良家族的深度表型分析

Vergaro, Andrea; Pankievic, Monika; Jedlickova, Jana; Dudakova, Lubica; Vajter, Marie; Michaelides, Michel; Meliska, Martin; Nemec, Pavel; Babincova, Daniela; Kousal, Bohdan; Liskova, Petra

Plasmonic Ag/Cu/PEG nanofluids prepared when solids meet liquids in the gas phase

在气相中固液相混合时制备等离子体Ag/Cu/PEG纳米流体

Biliak, Kateryna; Nikitin, Daniil; Ali-Ogly, Suren; Protsak, Mariia; Pleskunov, Pavel; Tosca, Marco; Sergievskaya, Anastasiya; Cornil, David; Cornil, Jérôme; Konstantinidis, Stephanos; Košutová, Tereza; Černochová, Zulfiya; Štěpánek, Petr; Hanuš, Jan; Kousal, Jaroslav; Hanyková, Lenka; Krakovský, Ivan; Choukourov, Andrei

Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

病例报告:MT-ND1基因中的罕见变异m.4135T>C导致莱伯遗传性视神经病变和呼吸链超复合物改变

Rákosníková, Tereza; Kelifová, Silvie; Štufková, Hana; Lokvencová, Kateřina; Lišková, Petra; Kousal, Bohdan; Honzík, Tomáš; Hansíková, Hana; Martínek, Václav; Tesařová, Markéta

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

DNAJC30缺陷:是隐性遗传性Leber视神经病变和Leigh综合征的常见病因。

Stenton, Sarah L; Tesarova, Marketa; Sheremet, Natalia L; Catarino, Claudia B; Carelli, Valerio; Ciara, Elżbieta; Curry, Kathryn; Engvall, Martin; Fleming, Leah R; Freisinger, Peter; Iwanicka-Pronicka, Katarzyna; Jurkiewicz, Elżbieta; Klopstock, Thomas; Koenig, Mary K; Kolářová, Hana; Kousal, Bohdan; Krylova, Tatiana; La Morgia, Chiara; Nosková, Lenka; Piekutowska-Abramczuk, Dorota; Russo, Sam N; Stránecký, Viktor; Tóthová, Iveta; Träisk, Frank; Prokisch, Holger

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

多组学方法解析了北卡罗来纳州黄斑营养不良症(一种视网膜增强子病变)的顺式调控机制。

Van de Sompele, Stijn; Small, Kent W; Cicekdal, Munevver Burcu; Soriano, Víctor López; D'haene, Eva; Shaya, Fadi S; Agemy, Steven; Van der Snickt, Thijs; Rey, Alfredo Dueñas; Rosseel, Toon; Van Heetvelde, Mattias; Vergult, Sarah; Balikova, Irina; Bergen, Arthur A; Boon, Camiel J F; De Zaeytijd, Julie; Inglehearn, Chris F; Kousal, Bohdan; Leroy, Bart P; Rivolta, Carlo; Vaclavik, Veronika; van den Ende, Jenneke; van Schooneveld, Mary J; Gómez-Skarmeta, José Luis; Tena, Juan J; Martinez-Morales, Juan R; Liskova, Petra; Vleminckx, Kris; De Baere, Elfride

Structure of Plasma (re)Polymerized Polylactic Acid Films Fabricated by Plasma-Assisted Vapour Thermal Deposition

等离子体辅助气相热沉积法制备的等离子体(再)聚合聚乳酸薄膜的结构

Krtouš, Zdeněk; Hanyková, Lenka; Krakovský, Ivan; Nikitin, Daniil; Pleskunov, Pavel; Kylián, Ondřej; Sedlaříková, Jana; Kousal, Jaroslav

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

ALG3-CDG:一例携带新型变异的患者及其遗传和眼科检查结果回顾

Farolfi, Martina; Cechova, Anna; Ondruskova, Nina; Zidkova, Jana; Kousal, Bohdan; Hansikova, Hana; Honzik, Tomas; Liskova, Petra

Advances and challenges in the field of plasma polymer nanoparticles

等离子体聚合物纳米粒子领域的进展与挑战

Choukourov, Andrei; Pleskunov, Pavel; Nikitin, Daniil; Titov, Valerii; Shelemin, Artem; Vaidulych, Mykhailo; Kuzminova, Anna; Solař, Pavel; Hanuš, Jan; Kousal, Jaroslav; Kylián, Ondřej; Slavínská, Danka; Biederman, Hynek