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

Impact of Inner Retinal Layer Thinning on Visual Function in OPA1 Autosomal Dominant Optic Atrophy and Associations With Age and Genetic Variant Class

内层视网膜变薄对 OPA1 常染色体显性遗传性视神经萎缩患者视觉功能的影响及其与年龄和基因变异类型的关联

Schrittwieser, Johannes; Reitner, Andreas; Kircher, Karl; Bertich, Martin; Stapf, Christoph; Lilja, Stephanie V; Paquay, Amina; Reiter, Gregor S; Bittner, Reginald E; Schmidt, Wolfgang M; Pemp, Berthold

Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome

携带 NAA10 错义变异 p.(L126R)、p.(L126V) 或 p.(F128L) 的女性个体表现出表型变异,这些变异会导致 NAA10 相关综合征。

Bühler, Anja; Aigner-Radakovics, Katharina; Diofano, Federica; Marchi, Elaine; Weinmann-Emhardt, Karolina; Paquay, Amina; Lilja, Stephanie V; Rosensteiner, Bernhard; Harpell, Randie; Bernard, Ewelina; Just, Steffen; Bittner, Reginald E; Lyon, Gholson J; Kustermann, Monika

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick

Pathogen Surveillance for Acute Infectious Conjunctivitis

急性感染性结膜炎病原体监测

Tsui, Edmund; Sella, Ruti; Tham, Vivien; Kong, Alan W; McClean, Esmeralda; Goren, Lee; Bahar, Irit; Cherian, Nina; Ramirez, Joana; Hughes, Reginald E Jr; Privratsky, Joseph K; Onclinx, Tania; Feit-Leichman, Rachel; Cheng, Angel; Molina, Iliana; Kim, Phillip; Yu, Carol; Ruder, Kevin; Tan, Alexander; Chen, Cindi; Liu, YuHeng; Abraham, Thomas; Hinterwirth, Armin; Zhong, Lina; Porco, Travis C; Lietman, Thomas M; Seitzman, Gerami D; Doan, Thuy

Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency

人类和鼠类遗传性醚脂质缺乏症的心脏病理学重叠和独特特征

Fabian Dorninger, Attila Kiss, Peter Rothauer, Alexander Stiglbauer-Tscholakoff, Stefan Kummer, Wedad Fallatah, Mireia Perera-Gonzalez, Ouafa Hamza, Theresa König, Michael B Bober, Tiscar Cavallé-Garrido, Nancy E Braverman, Sonja Forss-Petter, Christian Pifl, Jan Bauer, Reginald E Bittner, Thomas H

Proteins implicated in muscular dystrophy and cancer are functional constituents of the centrosome

与肌营养不良症和癌症有关的蛋白质是着丝粒的功能成分

Lilli Winter, Monika Kustermann, Büsra Ernhofer, Harald Höger, Reginald E Bittner, Wolfgang M Schmidt

Athlete ECG T-wave abnormality interpretation patterns by non-experts

非专业人士对运动员心电图T波异常的解读模式

Torabi, Asad J; Nahhas, Omar D; Dunn, Reginald E; Martinez, Matthew W; Tucker, Andrew M; Lincoln, Andrew E; Kovacs, Richard J; Emery, Michael S

High tidal volume ventilation is associated with ventilator-associated pneumonia in acute cervical spinal cord injury

高潮气量通气与急性颈髓损伤患者的呼吸机相关性肺炎相关

Hatton, Gabrielle E; Mollett, Patrick J; Du, Reginald E; Wei, Shuyan; Korupolu, Radha; Wade, Charles E; Adams, Sasha D; Kao, Lillian S

Positive Fluid Balance and Association with Post-Traumatic Acute Kidney Injury

正性体液平衡与创伤后急性肾损伤的关系

Hatton, Gabrielle E; Du, Reginald E; Wei, Shuyan; Harvin, John A; Finkel, Kevin W; Wade, Charles E; Kao, Lillian S

The Effects of Headgear in High School Girls' Lacrosse

头盔对高中女子长曲棍球的影响

Caswell, Shane V; Kelshaw, Patricia M; Lincoln, Andrew E; Herman, Daniel C; Hepburn, Lisa H; Vincent, Heather K; Dunn, Reginald E; Cortes, Nelson