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

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.

对与新型EYA4变异相关的DFNA10听力损失的病理生理学的深入了解

Morín Matias, Borreguero Lucía, Booth Kevin T, Lachgar María, Huygen Patrick, Villamar Manuela, Mayo Fernando, Barrio Luis Carlos, Santos Serrão de Castro Luciana, Morales Carmelo, Del Castillo Ignacio, Arellano Beatriz, Tellería Dolores, Smith Richard J H, Azaiez Hela, Moreno Pelayo M A

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

由TECTA基因突变引起的DFNA8/12是最常见的非综合征型常染色体显性遗传性听力损失亚型。

Hildebrand, Michael S; Morín, Matías; Meyer, Nicole C; Mayo, Fernando; Modamio-Hoybjor, Silvia; Mencía, Angeles; Olavarrieta, Leticia; Morales-Angulo, Carmelo; Nishimura, Carla J; Workman, Heather; DeLuca, Adam P; del Castillo, Ignacio; Taylor, Kyle R; Tompkins, Bruce; Goodman, Corey W; Schrauwen, Isabelle; Wesemael, Maarten Van; Lachlan, K; Shearer, A Eliot; Braun, Terry A; Huygen, Patrick L M; Kremer, Hannie; Van Camp, Guy; Moreno, Felipe; Casavant, Thomas L; Smith, Richard J H; Moreno-Pelayo, Miguel A