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

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

茶衣锌指同源框1的破坏与人类先天性耳道闭锁有关

Feenstra, Ilse; Vissers, Lisenka E L M; Pennings, Ronald J E; Nillessen, Willy; Pfundt, Rolph; Kunst, Henricus P; Admiraal, Ronald J; Veltman, Joris A; van Ravenswaaij-Arts, Conny M A; Brunner, Han G; Cremers, Cor W R J

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype

成骨不全症:听力表型与基因型缺乏相关性

Swinnen, Freya K R; Coucke, Paul J; De Paepe, Anne M; Symoens, Sofie; Malfait, Fransiska; Gentile, Filomena V; Sangiorgi, Luca; D'Eufemia, Patrizia; Celli, Mauro; Garretsen, Ton J T M; Cremers, Cor W R J; Dhooge, Ingeborg J M; De Leenheer, Els M R

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

纯合性作图分析揭示GRXCR1基因突变是常染色体隐性遗传非综合征型听力障碍的病因。

Schraders, Margit; Lee, Kwanghyuk; Oostrik, Jaap; Huygen, Patrick L M; Ali, Ghazanfar; Hoefsloot, Lies H; Veltman, Joris A; Cremers, Frans P M; Basit, Sulman; Ansar, Muhammad; Cremers, Cor W R J; Kunst, Henricus P M; Ahmad, Wasim; Admiraal, Ronald J C; Leal, Suzanne M; Kremer, Hannie

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction

PTPRQ基因突变是常染色体隐性遗传性非综合征型听力障碍DFNB84的病因,并与前庭功能障碍相关。

Schraders, Margit; Oostrik, Jaap; Huygen, Patrick L M; Strom, Tim M; van Wijk, Erwin; Kunst, Henricus P M; Hoefsloot, Lies H; Cremers, Cor W R J; Admiraal, Ronald J C; Kremer, Hannie

Pilot study on the effectiveness of the conventional CROS, the transcranial CROS and the BAHA transcranial CROS in adults with unilateral inner ear deafness

针对单侧内耳耳聋成人患者,开展传统CROS、经颅CROS和BAHA经颅CROS疗效的初步研究

Hol, Myrthe K S; Kunst, Sylvia J W; Snik, Ad F M; Cremers, Cor W R J

Quality of life after gamma knife radiosurgery treatment in patients with a vestibular schwannoma: the patient's perspective

伽玛刀放射外科治疗前庭神经鞘瘤患者后的生活质量:患者的视角

Timmer, Ferdinand C A; van Haren, Anniek E P; Mulder, Jef J S; Hanssens, Patrick E J; van Overbeeke, Jacobus J; Cremers, Cor W R J; Graamans, Kees

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

SDH5 是琥珀酸脱氢酶黄素化所需的基因,在副神经节瘤中发生突变。

Hao, Huai-Xiang; Khalimonchuk, Oleh; Schraders, Margit; Dephoure, Noah; Bayley, Jean-Pierre; Kunst, Henricus; Devilee, Peter; Cremers, Cor W R J; Schiffman, Joshua D; Bentz, Brandon G; Gygi, Steven P; Winge, Dennis R; Kremer, Hannie; Rutter, Jared

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis

全基因组分析确定了与耳硬化症相关的 RELN 基因的遗传变异

Isabelle Schrauwen, Megan Ealy, Matthew J Huentelman, Melissa Thys, Nils Homer, Kathleen Vanderstraeten, Erik Fransen, Jason J Corneveaux, David W Craig, Mireille Claustres, Cor W R J Cremers, Ingeborg Dhooge, Paul Van de Heyning, Robert Vincent, Erwin Offeciers, Richard J H Smith, Guy Van Camp

GRM7 variants confer susceptibility to age-related hearing impairment

GRM7基因变异会增加患老年性听力障碍的风险。

Friedman, Rick A; Van Laer, Lut; Huentelman, Matthew J; Sheth, Sonal S; Van Eyken, Els; Corneveaux, Jason J; Tembe, Waibhav D; Halperin, Rebecca F; Thorburn, Ashley Q; Thys, Sofie; Bonneux, Sarah; Fransen, Erik; Huyghe, Jeroen; Pyykkö, Ilmari; Cremers, Cor W R J; Kremer, Hannie; Dhooge, Ingeborg; Stephens, Dafydd; Orzan, Eva; Pfister, Markus; Bille, Michael; Parving, Agnete; Sorri, Martti; Van de Heyning, Paul H; Makmura, Linna; Ohmen, Jeffrey D; Linthicum, Frederick H Jr; Fayad, Jose N; Pearson, John V; Craig, David W; Stephan, Dietrich A; Van Camp, Guy

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein

Usher综合征和Leber先天性黑蒙在分子水平上通过一种新型的中心体九蛋白样蛋白亚型相关联。

van Wijk, Erwin; Kersten, Ferry F J; Kartono, Aileen; Mans, Dorus A; Brandwijk, Kim; Letteboer, Stef J F; Peters, Theo A; Märker, Tina; Yan, Xiumin; Cremers, Cor W R J; Cremers, Frans P M; Wolfrum, Uwe; Roepman, Ronald; Kremer, Hannie