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

Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study

46,XY性发育异常的分子诊断:单中心研究中采用定制靶向基因panel进行高效初步分子分析

Poyrazoglu, Sukran; Aghayev, Agharza; Toksoy, Guven; Karaman, Birsen; Aslanger, Ayca Dilruba; Avci, Sahin; Altunoglu, Umut; Karaman, Volkan; Yildiz, Melek; Abali, Zehra Yavas; Bas, Firdevs; Basaran, Seher; Darendeliler, Feyza; Uyguner, Zehra Oya

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

一种进行性RBL2相关神经发育障碍的临床和遗传特征

Aughey, Gabriel N; Cali, Elisa; Maroofian, Reza; Zaki, Maha S; Pagnamenta, Alistair T; Ali, Zafar; Abdulllah, Uzma; Rahman, Fatima; Menzies, Lara; Shafique, Anum; Suri, Mohnish; Roze, Emmanuel; Aguennouz, Mohammed; Ghizlane, Zouiri; Saadi, Saadia Maryam; Fatima, Ambrin; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Morel, Godelieve; Robin, Stephanie; McFarland, Robert; Altunoglu, Umut; Kraus, Verena; Shoukier, Moneef; Murphy, David; Flemming, Kristina; Yttervik, Hilde; Rhouda, Hajar; Lesca, Gaetan; Chatron, Nicolas; Rossi, Massimiliano; Murtaza, Bibi Nazia; Ur Rehman, Mujaddad; Lord, Jenny; Giacopuzzi, Edoardo; Hayat, Azam; Siraj, Muhammad; Shervin Badv, Reza; Seo, Go Hun; Beetz, Christian; Kayserili, Hülya; Krioulie, Yamna; Chung, Wendy K; Naz, Sadaf; Maqbool, Shazia; Chandler, Kate E; Kershaw, Christopher J; Wright, Thomas; Banka, Siddharth; Gleeson, Joseph G; Taylor, Jenny C; Efthymiou, Stephanie; Baig, Shahid Mahmood; Severino, Mariasavina; Jepson, James E C; Houlden, Henry

Applying Chitosan-Based Films Enriched with Borago officinalis Extract for Active and Green Packaging of Fresh Rainbow Trout Fillets

应用富含琉璃苣提取物的壳聚糖基薄膜对新鲜虹鳟鱼片进行活性环保包装

Güngören, Alper; Akkemik, Yasin; Tufekci, Enis Fuat; Zengin, Gökhan; Emre, Gizem; Gungoren, Gulsah; Celik Altunoglu, Yasemin; Baloğlu, Mehmet Cengiz

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Aarskog综合征:包括成年患者在内的新队列的深度表型分析和基因组图谱

Turgut, Gozde Tutku; Altunoglu, Umut; Avcı, Şahin; Kalaycı, Tuğba; Aslanger, Ayça Dilruba; Karaman, Volkan; Uyguner, Zehra Oya; Kayserili, Hülya

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females

8个新发现的颅额鼻综合征家族的临床和分子分析:重新审视女性表型谱的轻度端

Altunoglu, Umut; Karaman, Birsen; Alanay, Yasemin; Perçin, Ferda; Uyguner, Zehra Oya; Kayserili, Hülya

Exploring depression, comorbidities and quality of life in geriatric patients: a study utilizing the geriatric depression scale and WHOQOL-OLD questionnaire

探讨老年患者的抑郁症、合并症和生活质量:一项利用老年抑郁量表和WHOQOL-OLD问卷的研究

Cavdar, Vahit Can; Ballica, Basak; Aric, Mert; Karaca, Zekiye Busra; Altunoglu, Esma Guldal; Akbas, Feray

Multi-objective location-distribution optimization in blood supply chain: an application in Turkiye

血液供应链中的多目标选址-分布优化:以土耳其为例

Altunoglu, Burcu; Batur Sir, Gül Didem

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing

RNA/SI-NET 测序揭示了由 TAPT1 深内含子变异引起的早衰综合征

Nasrinsadat Nabavizadeh #, Annkatrin Bressin #, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker-Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova,

Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families

Nance-Horan综合征:三个新家族的牙科、临床和分子特征分析

Guven, Yeliz; Saracoglu, Hilal Piril; Aksakal, Sermin Dicle; Kalayci, Tugba; Altunoglu, Umut; Uyguner, Zehra Oya; Eraslan, Serpil; Borklu, Esra; Kayserili, Hulya

Gene-Editing Technologies and Applications in Legumes: Progress, Evolution, and Future Prospects

豆类基因编辑技术及应用:进展、发展与未来展望

Baloglu, Mehmet Cengiz; Celik Altunoglu, Yasemin; Baloglu, Pinar; Yildiz, Ali Burak; Türkölmez, Nil; Özden Çiftçi, Yelda