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

KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3

KIF21A相关周围神经病变定义为与TUBB3结合受损

Borja, Nicholas A; Zafeer, Mohammad Faraz; Bivona, Stephanie; Peart, LéShon; Gultekin, Sakir Humayun; Bademci, Guney; Tekin, Mustafa

Human organoids for rapid validation of gene variants linked to cochlear malformations.

利用人类类器官快速验证与耳蜗畸形相关的基因变异

Zafeer Mohammad Faraz, Ramzan Memoona, Duman Duygu, Mutlu Ahmet, Seyhan Serhat, Kalcioglu M Tayyar, Fitoz Suat, DeRosa Brooke A, Guo Shengru, Dykxhoorn Derek M, Tekin Mustafa

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.

遗传性听力损失的遗传异质性:纤毛运动蛋白 TOGARAM2 的潜在作用

Ramzan Memoona, Zafeer Mohammad Faraz, Abad Clemer, Guo Shengru, Owrang Daniel, Alper Ozgul, Mutlu Ahmet, Atik Tahir, Duman Duygu, Bademci Guney, Vona Barbara, Kalcioglu Mahmut Tayyar, Walz Katherina, Tekin Mustafa

Dispersed DNA variants underlie hearing loss in South Florida's minority population

南佛罗里达州少数族裔人群听力损失的根本原因在于分散的DNA变异。

Peart, LéShon; Gonzalez, Joanna; Morel Swols, Dayna; Duman, Duygu; Saridogan, Turcin; Ramzan, Memoona; Zafeer, Mohammad Faraz; Liu, Xue Zhong; Eshraghi, Adrien A; Hoffer, Michael E; Angeli, Simon I; Bademci, Guney; Blanton, Susan; Smith, Carson; Telischi, Fred F; Tekin, Mustafa

Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

新型 GPR156 变异体证实了其在中度感音神经性听力损失中的作用

Ramzan, Memoona; Bozan, Nazim; Seyhan, Serhat; Zafeer, Mohammad Faraz; Ayral, Aburrahman; Duman, Duygu; Bademci, Guney; Tekin, Mustafa

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

MINAR2基因(编码膜整合型NOTCH2相关受体2)的突变会导致人类和小鼠耳聋。

Bademci, Guney; Lachgar-Ruiz, María; Deokar, Mangesh; Zafeer, Mohammad Faraz; Abad, Clemer; Yildirim Baylan, Muzeyyen; Ingham, Neil J; Chen, Jing; Sineni, Claire J; Vadgama, Nirmal; Karakikes, Ioannis; Guo, Shengru; Duman, Duygu; Singh, Nitu; Harlalka, Gaurav; Jain, Shirish P; Chioza, Barry A; Walz, Katherina; Steel, Karen P; Nasir, Jamal; Tekin, Mustafa