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

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

ARHGAP19基因的双等位基因变异会导致进行性遗传性运动为主的神经病。

Dominik, Natalia; Efthymiou, Stephanie; Record, Christopher J; Miao, Xinyu; Lin, Renee Q; Parmar, Jevin M; Scardamaglia, Annarita; Maroofian, Reza; Lowe, Simon A; Aughey, Gabriel N; Wilson, Abigail D; Curro, Riccardo; Schnekenberg, Ricardo P; Alavi, Shahryar; Leclaire, Leif; He, Yi; Zhelcheska, Kristina; Bellaïche, Yohanns; Gaugué, Isabelle; Skorupinska, Mariola; Van de Vondel, Liedewei; Da'as, Sahar I; Turchetti, Valentina; Güngör, Serdal; Monahan, Gavin V; Ghayoor Karimiani, Ehsan; Jamshidi, Yalda; Lamont, Phillipa J; Armirola-Ricaurte, Camila; Topaloglu, Haluk; Jordanova, Albena; Zaman, Mashaya; Banu, Selina H; Marques, Wilson; Tomaselli, Pedro J; Aynekin, Busra; Cansu, Ali; Per, Huseyin; Güleç, Ayten; Alvi, Javeria Raza; Sultan, Tipu; Khan, Arif; Zifarelli, Giovanni; Ibrahim, Shahnaz; Mancini, Grazia M S; Motazacker, M M; Brusse, Esther; Lupo, Vincenzo; Sevilla, Teresa; Başak, A Nazli; Tekgul, Seyma; Palvadeau, Robin J; Baets, Jonathan; Parman, Yesim; Çakar, Arman; Horvath, Rita; Haack, Tobias B; Stahl, Jan-Hendrik; Grundmann-Hauser, Kathrin; Park, Joohyun; Zuchner, Stephan; Laing, Nigel G; Wilson, Lindsay A; Rossor, Alexander M; Polke, James; Figueiredo, Fernanda Barbosa; Pessoa, André; Kok, Fernando; Coimbra-Neto, Antônio Rodrigues; Franca, Marcondes C Jr; Ravenscroft, Gianina; Hamed, Sherifa A; Chung, Wendy K; Pittman, Alan M; Osborn, Daniel P; Hanna, Michael; Cortese, Andrea; Reilly, Mary M; Jepson, James Ec; Lamarche-Vane, Nathalie; Houlden, Henry

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33

在患有 Joubert 综合征 33 型的三兄妹中发现新的 PIBF1 致病变异

Aynekin, Busra; Samur, Bahadır M; Ozgul Gumus, Ummu Gulsum; Bilguvar, Kaya; Gulec, Ayten; Efthymiou, Stephanie; Gumus, Hakan; Caglayan, Ahmet Okay; Per, Huseyin

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth

TBC1D2B基因缺失会导致进行性神经系统疾病,并伴有牙龈增生。

Harms, Frederike L; Rexach, Jessica Erin; Efthymiou, Stephanie; Aynekin, Busra; Per, Hüseyin; Güleç, Ayten; Nampoothiri, Sheela; Sampaio, Hugo; Sachdev, Rani; Stoeva, Radka; Myers, Kasiani; Pena, Loren D M; Kalfa, Theodosia A; Chard, Marisa; Klassen, Megan; Pries, Megan; Kutsche, Kerstin

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy

扩展CHD2相关脑病的突变图谱和临床表型

Clara-Hwang, Angela; Stefani, Stefani; Lau, Tracy; Scala, Marcello; Aynekin, Busra; Bernardo, Pia; Madia, Francesca; Bakhtadze, Sophia; Kaiyrzhanov, Rauan; Maroofian, Reza; Zara, Federico; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju; Guliyeva, Ulviyya; Montavont, Alexandra; Poulat, Anne-Lise; Güleç, Ayten; Berger, Colette; Ville, Dorothee M; de Bellescize, Julitta; Cabet, Sara; Wonneberger, Antje; Schulz, Alexander; Rodriguez-Palmero, Agusti; Chatron, Nicolas; Lesca, Gaetan; Per, Hüseyin; Goel, Himanshu; Brown, Janis; Frey, Tanja; Steindl, Katharina; Rauch, Anita; Severino, Mariasavina; Houlden, Henry; Nicolaides, Paola; Striano, Pasquale; Efthymiou, Stephanie

COVID-19 vaccine candidates and vaccine development platforms available worldwide

全球可用的新冠病毒候选疫苗和疫苗研发平台

Duman, Nilgun; ALzaidi, Zahraa; Aynekin, Busra; Taskin, Duygu; Demirors, Busra; Yildirim, Abdulbaki; Sahin, Izem Olcay; Bilgili, Faik; Turanli, Eda Tahir; Beccari, Tommaso; Bertelli, Matteo; Dundar, Munis

Differentially regulated ADAMTS1, 8, 9, and 18 in pancreas adenocarcinoma

胰腺腺癌中ADAMTS1、8、9和18的差异表达

Kılıç, Murat Özgür; Aynekin, Büşra; Bozer, Mikdat; Kara, Adem; Haltaş, Hacer; İçen, Duygu; Demircan, Kadir