未登录.png)
分享.png)
收藏Carboxypeptidase D deficiency causes hearing loss amenable to treatment羧肽酶D缺乏导致可治疗的听力损失
Ramzan, Memoona; Ortiz-Vega, Natalie; Zafeer, Mohammad Faraz; Lobato, Amanda G.; Atik, Tahir; Abad, Clemer; Vadgama, Nirmal; Duman, Duygu; Bozan, Nazim; Durmusalioglu, Enise Avci; Greene, Sunny; Guo, Shengru; Tokgoz-Yilmaz, Suna; Yekeduz, Merve Koc; Eminoglu, Fatma Tuba; Aydin, Mehmet; Seyhan, Serhat; Karakikes, Ioannis; Camarena, Vladimir; Robayo, Maria Camila; Canic, Tijana; Bademci, Guney; Wang, Gaofeng; Farooq, Amjad; Joiner, Mei-ling; Walz, Katherina; Eberl, Daniel F.; Nasir, Jamal; Zhai, R. Grace; Tekin, Mustafa 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss编码GRB2-related衔接蛋白的GRAP功能障碍与感音神经性听力损失有关Li, Chong; Bademci, Guney; Subasioglu, Asli; Diaz-Horta, Oscar; Zhu, Yi; Liu, Jiaqi; Mitchell, Timothy Gavin; Abad, Clemer; Seyhan, Serhat; Duman, Duygu; Cengiz, Filiz Basak; Tokgoz-Yilmaz, Suna; Blanton, Susan H.; Farooq, Amjad; Walz, Katherina; Zhai, R. Grace; Tekin, Mustafa 分享 收藏 Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss多种综合征性耳聋基因的变异模拟非综合征性听力损失Bademci, G.; Cengiz, F. B.; Foster, J., II; Duman, D.; Sennaroglu, L.; Diaz-Horta, O.; Atik, T.; Kirazli, T.; Olgun, L.; Alper, H.; Menendez, I.; Loclar, I.; Sennaroglu, G.; Tokgoz-Yilmaz, S.; Guo, S.; Olgun, Y.; Mahdieh, N.; Bonyadi, M.; Bozan, N.; Ayral, A.; Ozkinay, F.; Yildirim-Baylan, M.; Blanton, S. H.; Tekin, M. 分享 收藏 ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and miceDiaz-Horta, Oscar; Abad, Clemer; Sennaroglu, Levent; Foster, Joseph, II; DeSmidt, Alexandra; Bademci, Guney; Tokgoz-Yilmaz, Suna; Duman, Duygu; Cengiz, F. Basak; Grati, M'hamed; Fitoz, Suat; Liu, Xue Z.; Farooq, Amjad; Imtiaz, Faiqa; Currall, Benjamin B.; Morton, Cynthia Casson; Nishita, Michiru; Minami, Yasuhiro; Lu, Zhongmin; Walz, Katherina; Tekin, Mustafa 分享 收藏 Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort通过外显子组测序进行的综合分析揭示了大型多种族队列中常染色体隐性遗传性非综合征性耳聋的遗传病因Bademci, Guney; Foster, Joseph, II; Mahdieh, Nejat; Bonyadi, Mortaza; Duman, Duygu; Cengiz, F. Basak; Menendez, Ibis; Diaz-Horta, Oscar; Shirkavand, Atefeh; Zeinali, Sirous; Subasioglu, Asli; Tokgoz-Yilmaz, Suna; Huesca-Hernandez, Fabiola; de la Luz Arenas-Sordo, Maria; Dominguez-Aburto, Juan; Hernandez-Zamora, Edgar; Montenegro, Paola; Paredes, Rosario; Moreta, Germania; Vinueza, Rodrigo; Villegas, Franklin; Mendoza-Benitez, Santiago; Guo, Shengru; Bozan, Nazim; Tos, Tulay; Incesulu, Armagan; Sennaroglu, Gonca; Blanton, Susan H.; Ozturkmen-Akay, Hatice; Yildirim-Baylan, Muzeyyen; Tekin, Mustafa 分享 收藏 FAM65B is a membrane-associated protein of hair cell stereocilia required for hearingDiaz-Horta, Oscar; Subasioglu-Uzak, Asli; Grati, M'hamed; DeSmidt, Alexandra; Foster, Joseph, II; Cao, Lei; Bademci, Guney; Tokgoz-Yilmaz, Suna; Duman, Duygu; Cengiz, F. Basak; Abad, Clemer; Mittal, Rahul; Blanton, Susan; Liu, Xue Z.; Farooq, Amjad; Walz, Katherina; Lu, Zhongmin; Tekin, Mustafa 分享 收藏 SLITRK6 mutations cause myopia and deafness in humans and miceTekin, Mustafa; Chioza, Barry A.; Matsumoto, Yoshifumi; Diaz-Horta, Oscar; Cross, Harold E.; Duman, Duygu; Kokotas, Haris; Moore-Barton, Heather L.; Sakoori, Kazuto; Ota, Maya; Odaka, Yuri S.; Foster, Joseph, II; Cengiz, F. Basak; Tokgoz-Yilmaz, Suna; Tekeli, Oya; Grigoriadou, Maria; Petersen, Michael B.; Sreekantan-Nair, Ajith; Gurtz, Kay; Xia, Xia-Juan; Pandya, Arti; Patton, Michael A.; Young, Juan I.; Aruga, Jun; Crosby, Andrew H. 分享 收藏 Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing LossYariz, Kemal O.; Duman, Duygu; Seco, Celia Zazo; Dallman, Julia; Huang, Mingqian; Peters, Theo A.; Sirmaci, Asli; Lu, Na; Schraders, Margit; Skromne, Isaac; Oostrik, Jaap; Diaz-Horta, Oscar; Young, Juan I.; Tokgoz-Yilmaz, Suna; Konukseven, Ozlem; Shahin, Hashem; Hetterschijt, Lisette; Kanaan, Moien; Oonk, Anne M. M.; Edwards, Yvonne J. K.; Li, Huawei; Atalay, Semra; Blanton, Susan; DeSmidt, Alexandra A.; Liu, Xue-Zhong; Pennings, Ronald J. E.; Lu, Zhongmin; Chen, Zheng-Yi; Kremer, Hannie; Tekin, Mustafa 分享 收藏 A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing LossSirmaci, Asli; Erbek, Seyra; Price, Justin; Huang, Mingqian; Duman, Duygu; Cengiz, F. Basak; Bademci, Gueney; Tokgoz-Yilmaz, Suna; Hismi, Burcu; Ozdag, Hilal; Ozturk, Banu; Kulaksizoglu, Sevsen; Yildirim, Erkan; Kokotas, Haris; Grigoriadou, Maria; Petersen, Michael B.; Shahin, Hashem; Kanaan, Moien; King, Mary-Claire; Chen, Zheng-Yi; Blanton, Susan H.; Liu, Xue Z.; Zuchner, Stephan; Akar, Nejat; Tekin, Mustafa 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
