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

Analyzing the "Opposite" Approach in Additions to Historic Buildings Using Visual Attention Tools: Dresden Military History Museum Case

运用视觉注意力工具分析历史建筑扩建中的“反向”方法:以德累斯顿军事历史博物馆为例

Özkaraca Özalp, Nuray; Halaç, Hicran Hanım; Özalp, Mehmet Fatih; Bademci, Fikret

Carboxypeptidase D deficiency causes hearing loss amenable to treatment

羧肽酶D缺乏症会导致听力损失,但这种损失可以通过治疗得到改善。

Memoona Ramzan ,Natalie Ortiz-Vega ,Mohammad Faraz Zafeer ,Amanda G Lobato ,Tahir Atik ,Clemer Abad ,Nirmal Vadgama ,Duygu Duman ,Nazım Bozan ,Enise Avcı Durmuşalioǧlu ,Sunny Greene ,Shengru Guo ,Suna Tokgöz-Yılmaz ,Merve Koç Yekedüz ,Fatma Tuba Eminoğlu ,Mehmet Aydın ,Serhat Seyhan ,Ioannis Karakikes ,Vladimir Camarena ,Maria Camila Robayo ,Tijana Canic ,Güney Bademci ,Gaofeng Wang ,Amjad Farooq ,Mei-Ling Joiner ,Katherina Walz ,Daniel F Eberl ,Jamal Nasir ,R Grace Zhai ,Mustafa Tekin

De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms

CDKL1 和 CDKL2 的新生变异与神经发育症状相关

Bereshneh, Ali H; Andrews, Jonathan C; Eberl, Daniel F; Bademci, Guney; Borja, Nicholas A; Bivona, Stephanie; Chung, Wendy K; Yamamoto, Shinya; Wangler, Michael F; McKee, Shane; Tekin, Mustafa; Bellen, Hugo J; Kanca, Oguz

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

全转录组异常值方法识别患有轻微剪接异常的个体

Arriaga, Taylor M; Mendez, Rodrigo; Ungar, Rachel A; Bonner, Devon E; Matalon, Dena R; Lemire, Gabrielle; Goddard, Pagé C; Padhi, Evin M; Miller, Alexander M; Nguyen, Jonathan V; Ma, Jialan; Smith, Kevin S; Scott, Stuart A; Liao, Linda; Ng, Zena; Marwaha, Shruti; Bademci, Guney; Bivona, Stephanie A; Tekin, Mustafa; Bernstein, Jonathan A; Montgomery, Stephen B; O'Donnell-Luria, Anne; Wheeler, Matthew T; Ganesh, Vijay S

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

利用全基因组方法在未确诊疾病网络队列中发现新的重复序列扩增疾病

Fazal, Sarah; Dashnow, Harriet; Dohrn, Maike F; Raposo, Jacquelyn; Hiatt, Laurel; Danzi, Matt C; Xu, Isaac R L; Toro, Camilo; Adams, David R; Usdin, Karen; Hayward, Bruce; Kobren, Shilpa Nadimpalli; Sunyaev, Shamil R; Spillmann, Rebecca C; Shashi, Vandana; Rebelo, Adriana; Bademci, Guney; Tekin, Mustafa; Quinlan, Aaron R; Zuchner, Stephan

Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies

基因组测序揭示了具有先天性前段异常的多元化人群中的新变异

Hussain, Ashraf; Villalba, Maria Fernanda; Swols, Dayna Morel; Khzam, Rayan Abou; Johnson, Brittney Keira; Peart, LéShon; D'Haiti, Sarha; Grajewski, Alana L; Tekin, Mustafa; Chang, Ta Chen; Bademci, Guney

KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3

KIF21A相关周围神经病变定义为与TUBB3结合受损

Borja, Nicholas A; Zafeer, Mohammad Faraz; Bivona, Stephanie; Peart, LéShon; Gultekin, Sakir Humayun; Bademci, Guney; Tekin, Mustafa

The role of social media and infographics in increasing cultural heritage awareness of young athletes: an experimental study

社交媒体和信息图表在提高年轻运动员文化遗产意识方面的作用:一项实验研究

Bademci, Fikret; Halaç, Hicran Hanım

Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature

NHP2基因纯合变异的兄弟姐妹:病例报告及文献综述

Sürücü Kara, İlknur; Duman, Duygu; Bademci, Güney; Kuloglu, Zarife; Kaynak Sahap, Seda; Tekin, Mustafa; Eminoğlu, Fatma Tuba

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

全转录组异常值方法识别患有轻微剪接异常的个体

Arriaga, Maggie T; Mendez, Rodrigo; Ungar, Rachel A; Bonner, Devon E; Matalon, Dena R; Lemire, Gabrielle; Goddard, Pagé C; Padhi, Evin M; Miller, Alexander M; Nguyen, Jonathon V; Ma, Jialan; Smith, Kevin S; Scott, Stuart A; Liao, Linda; Ng, Zena; Marwaha, Shruti; Bademci, Guney; Bivona, Stephanie A; Tekin, Mustafa; Bernstein, Jonathan A; Montgomery, Stephen B; O'Donnell-Luria, Anne; Wheeler, Matthew T; Ganesh, Vijay S