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

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health

探索 Usher 综合征 1B 型中的细胞外囊泡微 RNA:泪液来源的细胞外囊泡作为视网膜健康的潜在指标

Bervoets, Sander; Duijkers, Lonneke; Velde, Hedwig M; Corradi, Zelia; van Oosten, Edwin M; Suárez-Herrera, Nuria; Garanto, Alejandro; Moreno-Pelayo, Miguel A; Pennings, Ronald J E; Collin, Rob W J; Vázquez-Domínguez, Irene

From Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A

从声音到稳定性:CRUSH研究中关于Usher综合征2A型患者听力损失进展和前庭表型的经验教训

Wijn, Dirk H; Fehrmann, Mirthe L A; Robijn, Sybren M M; Velde, Hedwig M; Smits, Jeroen J; van Wijk, Erwin; Beynon, Andy J; Cals, Froukje L J; Hoyng, Carel B; Yzer, Suzanne; Lanting, Cris P; Pennings, Ronald J E

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

对大量听力障碍患者进行外显子组变异优先排序表明,IKZF2 与非综合征性听力损失相关,并指导未来对未解决病例的研究

Velde Hedwig M, Vaseghi-Shanjani Maryam, Smits Jeroen J, Ramakrishnan Gayatri, Oostrik Jaap, Wesdorp Mieke, Astuti Galuh, Yntema Helger G, Hoefsloot Lies, Lanting Cris P, Huynen Martijn A, Lehman Anna, Turvey Stuart E, Pennings Ronald J E, Kremer Hannie

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38

对一种与 DFNA6/14/38 相关的新型 WFS1 变异体 (c.2512C>T p.(Pro838Ser)) 进行基因型和表型分析

Velde, Hedwig M; Huizenga, Xanne J J; Yntema, Helger G; Haer-Wigman, Lonneke; Beynon, Andy J; Oostrik, Jaap; Pegge, Sjoert A H; Kremer, Hannie; Lanting, Cris P; Pennings, Ronald J E

O5.5. SLEEP IN MAJOR PSYCHIATRIC DISORDERS: RESULTS FROM NATIONWIDE SUPER FINLAND STUDY

O5.5. 严重精神疾病患者的睡眠:来自芬兰全国性超级研究的结果

Hendricks, Jessie M; Metz, Juriaan R; Velde, Hedwig M; Weeda, Jack; Hartgers, Franca; Yzer, Suzanne; Hoyng, Carel B; Pennings, Ronald J E; Collin, Rob W J; Boss, Myrthe H M; de Vrieze, Erik; van Wijk, Erwin; Torniainen-Holm, Minna; Cederlöf, Erik; Haaki, Willehard; Hietala, Jarmo; Häkkinen, Katja; Isometsä, Erkki; Joutsenniemi, Kaisla; Jukuri, Tuomas; Kajanne, Risto; Kampman, Olli; Kieseppä, Tuula; Lindberg, Nina; Lähteenvuo, Markku; Lönnqvist, Jouko; Männynsalo, Teemu; Niemi-Pynttäri, Jussi; Suokas, Kimmo; Suvisaari, Jaana; Tiihonen, Jari; Tuulio-Henriksson, Annamari; Wegelius, Asko; Veijola, Juha; Palotie, Aarno; Paunio, Tiina