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

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

深入了解患有 Alport 综合征的土耳其人群的 COL4A3、COL4A4 和 COL4A5 变异以及基因型-表型相关性

Cuneyd Yavas, Nehir Ozdemir Ozgenturk, Mustafa Dogan, Alper Gezdirici, Ece Keskin, Ezgi Gokpınar İli, Tunay Dogan, Evrim Celebi, Onur Bender, Cemal Un

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

EMILIN1 缺乏会导致动脉曲折和骨质减少,并将弹性蛋白生成受损与胶原纤维生成缺陷联系起来

Christin S Adamo, Aude Beyens, Alvise Schiavinato, Douglas R Keene, Sara F Tufa, Matthias Mörgelin, Jürgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, Lore Pottie, Laura Muiño-Mosquera, Elif Yilmaz Gulec, Alper Gezdirici, Paola Braghetta, Paolo Bonaldo, Raimund Wagener, Mats Paulsson, He

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

土耳其人群中神经发育障碍多位点致病变异的患病率较高

Tadahiro Mitani ,Sedat Isikay ,Alper Gezdirici ,Elif Yilmaz Gulec ,Jaya Punetha ,Jawid M Fatih ,Isabella Herman ,Gulsen Akay ,Haowei Du ,Daniel G Calame ,Akif Ayaz ,Tulay Tos ,Gozde Yesil ,Hatip Aydin ,Bilgen Geckinli ,Nursel Elcioglu ,Sukru Candan ,Ozlem Sezer ,Haktan Bagis Erdem ,Davut Gul ,Emine Demiral ,Muhsin Elmas ,Osman Yesilbas ,Betul Kilic ,Serdal Gungor ,Ahmet C Ceylan ,Sevcan Bozdogan ,Ozge Ozalp ,Salih Cicek ,Huseyin Aslan ,Sinem Yalcintepe ,Vehap Topcu ,Yavuz Bayram ,Christopher M Grochowski ,Angad Jolly ,Moez Dawood ,Ruizhi Duan ,Shalini N Jhangiani ,Harsha Doddapaneni ,Jianhong Hu ,Donna M Muzny ,Zeynep Coban Akdemir ,Ender Karaca ,Claudia M B Carvalho ,Richard A Gibbs ,Jennifer E Posey ,James R Lupski ,Davut Pehlivan

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

复杂性状关节挛缩的基因组学:候选基因和寡基因遗传的进一步证据

Davut Pehlivan, Yavuz Bayram, Nilay Gunes, Zeynep Coban Akdemir, Anju Shukla, Tatjana Bierhals, Burcu Tabakci, Yavuz Sahin, Alper Gezdirici, Jawid M Fatih, Elif Yilmaz Gulec, Gozde Yesil, Jaya Punetha, Zeynep Ocak, Christopher M Grochowski, Ender Karaca, Hatice Mutlu Albayrak, Periyasamy Radhakrishn

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

隐性 DNAH9 功能丧失突变导致侧向性缺陷和细微的呼吸纤毛摆动缺陷

Niki T Loges, Dinu Antony, Ales Maver, Matthew A Deardorff, Elif Yýlmaz Güleç, Alper Gezdirici, Tabea Nöthe-Menchen, Inga M Höben, Lena Jelten, Diana Frank, Claudius Werner, Johannes Tebbe, Kaman Wu, Elizabeth Goldmuntz, Goran Čuturilo, Bryan Krock, Alyssa Ritter, Rim Hjeij, Zeineb Bakey, Petra Penn