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

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants

扩展DYT-VPS16的遗传和表型谱:剪接位点变异的重要性

Westenberger, Ana; Verdura, Edgard; Radefeldt, Mandy; Sanderson, Leslie E; Tripolszki, Kornelia; Marcé-Grau, Anna; Cazurro-Gutiérrez, Ana; Nikoncuk, Anita; Herzog, Rebecca; Al-Ali, Ruslan; Ferreira, Mariana; Almeida, Ligia S; Silveira, Tainá Regina Damaceno; Khan, Suliman; Maia, Raphael Doyle; Klivényi, Péter; Salamon, András; Baltaci, Volkan; Subasioglu, Asli; Prada-Arismendy, Jeanette; Čuturilo, Goran; Loens, Sebastian; Tadic, Vera; Maystadt, Isabelle; Karadurmus, Deniz; Leube, Barbara; De Winter, Jonathan; Monticelli, Alice; De Waele, Liesbeth; Baets, Jonathan; Vinkšel, Mateja; Maver, Aleš; Tschopp, Lorena; Ziegler, Gabriela; Sanguinetti, Ana; Lohmann, Katja; Barakat, Tahsin Stefan; Bauer, Peter; Perez-Dueñas, Belén; Bertoli-Avella, Aida M

Clinical Significance of MTHFR C677T and A1298C Polymorphisms in Adult Patients with ALL and NHL

MTHFR C677T 和 A1298C 多态性在成人急性淋巴细胞白血病 (ALL) 和非霍奇金淋巴瘤 (NHL) 患者中的临床意义

Kiper Unal, Hatice Demet; Cetintepe, Tugba; Gasimli, Roya; Garip Acar, Alev; Aygun, Kemal; Solmaz, Serife; Subasioglu, Asli; Aksun, Saliha; Payzin, Bahriye

Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss

在常染色体显性遗传性感觉神经性听力损失家族中鉴定出新的MYH14变异

Duman, Duygu; Ramzan, Memoona; Subasioglu, Asli; Mutlu, Ahmet; Peart, LéShon; Seyhan, Serhat; Guo, Shengru; Ila, Kadri; Balta, Burhan; Kalcioglu, Mahmut Tayyar; Bademci, Guney; Tekin, Mustafa

Radixin modulates the function of outer hair cell stereocilia

拉迪辛调节外毛细胞立体纤毛的功能

Sonal Prasad ,Barbara Vona ,Marta Diñeiro ,María Costales ,Rocío González-Aguado ,Ana Fontalba ,Clara Diego-Pérez ,Asli Subasioglu ,Guney Bademci ,Mustafa Tekin ,Rubén Cabanillas ,Juan Cadiñanos ,Anders Fridberger

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

GRAP基因功能障碍(GRAP编码GRB2相关衔接蛋白)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

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全面分析,揭示了大型多民族队列中常染色体隐性非综合征性耳聋的遗传病因

Bademci, Guney; Foster, Joseph 2nd; 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

Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis

康拉迪-胡内曼-哈普尔综合征中依莫帕米结合蛋白突变表现为斑块型银屑病

Ozyurt, Kemal; Subasioglu, Asli; Ozturk, Perihan; Inci, Rahime; Ozkan, Fuat; Bueno, Elena; Cañueto, Javier; González Sarmiento, Rogelio

A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia

RUNX2基因的谷氨酰胺重复序列变异导致锁骨颅骨发育不良

Mastushita, Masaki; Kitoh, Hiroshi; Subasioglu, Asli; Kurt Colak, Fatma; Dundar, Munis; Mishima, Kenichi; Nishida, Yoshihiro; Ishiguro, Naoki

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

新型的POU3F4结构域特异性突变与X连锁耳聋相关:来自不同人群的实例

Bademci, Guney; Lasisi, Akeem; Yariz, Kemal O; Montenegro, Paola; Menendez, Ibis; Vinueza, Rodrigo; Paredes, Rosario; Moreta, Germania; Subasioglu, Asli; Blanton, Susan; Fitoz, Suat; Incesulu, Armagan; Sennaroglu, Levent; Tekin, Mustafa

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

FAM65B 是听觉所必需的毛细胞纤毛膜相关蛋白

Oscar Diaz-Horta, Asli Subasioglu-Uzak, M'hamed Grati, Alexandra DeSmidt, Joseph Foster 2nd, Lei Cao, Guney Bademci, Suna Tokgoz-Yilmaz, Duygu Duman, F Basak Cengiz, Clemer Abad, Rahul Mittal, Susan Blanton, Xue Z Liu, Amjad Farooq, Katherina Walz, Zhongmin Lu, Mustafa Tekin