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

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I-A Cross-sectional Study of Hearing Function in 111 Carriers

携带 COCH (DFNA9) p.Pro51Ser (p.P51S) 变异的大量患者的基因型-表型相关性研究：第一部分 111 名携带者听力功能的横断面研究

期刊:Ear and Hearing
影响因子:2.8
doi:10.1097/AUD.0000000000001099
JanssensdeVarebeke, Sebastien P F; Moyaert, Julie; Fransen, Erik; Bulen, Britt; Neesen, Celine; Devroye, Katrien; van de Berg, Raymond; Pennings, Ronald J E; Topsakal, Vedat; Vanderveken, Olivier; Van Camp, Guy; Van Rompaey, Vincent
发表日期：2021
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Genotype-Phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9) Part II: A Prospective Cross-Sectional Study of the Vestibular Phenotype in 111 Carriers

携带 COCH (DFNA9) p.Pro51Ser (p.P51S) 变异的大量患者的基因型-表型相关性研究 第二部分：111 名携带者前庭表型的前瞻性横断面研究

期刊:Ear and Hearing
影响因子:2.8
doi:10.1097/AUD.0000000000001070
JanssensdeVarebeke, Sebastien P F; Moyaert, Julie; Fransen, Erik; Bulen, Britt; Neesen, Celine; Devroye, Katrien; van de Berg, Raymond; Pennings, Ronald J E; Topsakal, Vedat; Vanderveken, Olivier; Van Camp, Guy; Van Rompaey, Vincent
发表日期：2021
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Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment

COCH基因的双等位基因失活变异会导致常染色体隐性遗传的语前听力障碍。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-017-0066-2
JanssensdeVarebeke, Sebastien P F; Van Camp, Guy; Peeters, Nils; Elinck, Ellen; Widdershoven, Josine; Cox, Tony; Deben, Kristof; Ketelslagers, Katrien; Crins, Tom; Wuyts, Wim
发表日期：2018
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