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

Novel use of interleukin-1 antagonists in male familial Mediterranean fever patients with infertility: Case series

白细胞介素-1拮抗剂在男性家族性地中海热不育患者中的新应用:病例系列

Egeli, Bugra; Parlar, Kerem; Filiz, Basak; Durucan, Ibrahim; Ugurlu, Serdal

Evaluation of monocyte to HDL cholesterol ratio and other inflammatory markers in patients with psoriasis

评估银屑病患者的单核细胞与高密度脂蛋白胆固醇比值及其他炎症标志物

Sirin, Mumtaz Cem; Korkmaz, Selma; Erturan, Ijlal; Filiz, Basak; Aridogan, Buket Cicioglu; Cetin, Emel Sesli; Yildirim, Mehmet

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

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

候选基因FAM183A的鉴定以及已知基因中新的致病变异:常染色体隐性遗传智力障碍具有高度遗传异质性

McSherry, Megan; Masih, Katherine E; Elcioglu, Nursel H; Celik, Pelin; Balci, Ozge; Cengiz, Filiz Basak; Nunez, Daniella; Sineni, Claire J; Seyhan, Serhat; Kocaoglu, Defne; Guo, Shengru; Duman, Duygu; Bademci, Guney; Tekin, Mustafa

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

21号染色体单体,由21q22.11q22.3重复补偿,病例体型较小,畸形程度较轻。

Su, Meng; Benke, Paul J; Bademci, Guney; Cengiz, Filiz Basak; Ouyang, Xiaomei; Peng, Jinghong; Casas, Carmen E; Tekin, Mustafa; Fan, Yao-Shan

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

Ripor2 参与听觉毛细胞纤毛束的结构和方向

Oscar Diaz-Horta, Clemer Abad, Filiz Basak Cengiz, Guney Bademci, Pat Blackwelder, Katherina Walz, Mustafa Tekin

Novel EYA1 variants causing Branchio-oto-renal syndrome

导致鳃耳肾综合征的新型EYA1变异

Klingbeil, Kyle D; Greenland, Christopher M; Arslan, Selcuk; Llamos Paneque, Arianne; Gurkan, Hakan; Demir Ulusal, Selma; Maroofian, Reza; Carrera-Gonzalez, Andrea; Montufar-Armendariz, Stefany; Paredes, Rosario; Elcioglu, Nursel; Menendez, Ibis; Behnam, Mahdiyeh; Foster, Joseph 2nd; Guo, Shengru; Escarfuller, Sebastian; Cengiz, Filiz Basak; Duman, Duygu; Bademci, Guney; Tekin, Mustafa

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

在多民族人群中,新的致病变异是SLC26A4相关听力损失的根本原因

Cengiz, Filiz Basak; Yilmazer, Rasim; Olgun, Levent; Sennaroglu, Levent; Kirazli, Tayfun; Alper, Hudaver; Olgun, Yuksel; Incesulu, Armagan; Atik, Tahir; Huesca-Hernandez, Fabiola; Domínguez-Aburto, Juan; González-Rosado, Garly; Hernandez-Zamora, Edgar; Arenas-Sordo, Maria de la Luz; Menendez, Ibis; Orhan, Kadir Serkan; Avci, Hakan; Mahdieh, Nejat; Bonyadi, Mortaza; Foster, Joseph 2nd; Duman, Duygu; Ozkinay, Ferda; Blanton, Susan H; Bademci, Guney; Tekin, Mustafa

Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation

由ATP6V1B2基因突变引起的显性遗传性耳聋-甲营养不良综合征

Menendez, Ibis; Carranza, Claudia; Herrera, Mariana; Marroquin, Nely; Foster, Joseph 2nd; Cengiz, Filiz Basak; Bademci, Guney; Tekin, Mustafa

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss

通过全外显子组测序鉴定常染色体隐性非综合征性听力损失中的拷贝数变异

Bademci, Guney; Diaz-Horta, Oscar; Guo, Shengru; Duman, Duygu; Van Booven, Derek; Foster, Joseph 2nd; Cengiz, Filiz Basak; Blanton, Susan; Tekin, Mustafa