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

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

Mannose binding lectin gene 2 (rs1800450) missense variant may contribute to development and severity of COVID-19 infection

甘露糖结合凝集素基因2(rs1800450)错义变异可能与COVID-19感染的发生发展和严重程度有关

Medetalibeyoglu, Alpay; Bahat, Gulistan; Senkal, Naci; Kose, Murat; Avci, Kader; Sayin, Gozde Yesil; Isoglu-Alkac, Ummuhan; Tukek, Tufan; Pehlivan, Sacide

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

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

整体转录紊乱是 Cornelia de Lange 综合征及其相关表型的基础

Bo Yuan, Davut Pehlivan, Ender Karaca, Nisha Patel, Wu-Lin Charng, Tomasz Gambin, Claudia Gonzaga-Jauregui, V Reid Sutton, Gozde Yesil, Sevcan Tug Bozdogan, Tulay Tos, Asuman Koparir, Erkan Koparir, Christine R Beck, Shen Gu, Huseyin Aslan, Ozge Ozalp Yuregir, Khalid Al Rubeaan, Dhekra Alnaqeb, Mune