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

Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation

在内耳畸形患者中发现的新型 POU3F4 变异表现出异常的细胞分布和缺乏 SLC6A20 转录上调

Emanuele Bernardinelli, Sebastian Roesch, Edi Simoni, Angela Marino, Gerd Rasp, Laura Astolfi, Antonio Sarikas, Silvia Dossena

Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

SLC26A4 变异的功能测试 - 奥地利前庭导水管扩张患者群体的临床和分子分析

Sebastian Roesch, Emanuele Bernardinelli, Charity Nofziger, Miklós Tóth, Wolfgang Patsch, Gerd Rasp, Markus Paulmichl, Silvia Dossena