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

Telomere Biology, Erosion, and Age-Related Conditions: Insights from Down Syndrome and Other Telomere-Associated Disorders

端粒生物学、侵蚀和年龄相关疾病:来自唐氏综合征和其他端粒相关疾病的启示

Kutasi, Enikő; Chis, Adina; Vintan, Mihaela Adela; AlKhzouz, Camelia; Văduva, Diana Alexandra; Cătană, Andreea; Vulturar, Romana

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

SCN1A功能获得性疾病谱:新型癫痫表型及其治疗意义

Brunklaus, Andreas; Brünger, Tobias; Feng, Tony; Fons, Carmen; Lehikoinen, Anni; Panagiotakaki, Eleni; Vintan, Mihaela-Adela; Symonds, Joseph; Andrew, James; Arzimanoglou, Alexis; Delima, Sarah; Gallois, Julie; Hanrahan, Donncha; Lesca, Gaetan; MacLeod, Stewart; Marjanovic, Dragan; McTague, Amy; Nuñez-Enamorado, Noemi; Perez-Palma, Eduardo; Scott Perry, M; Pysden, Karen; Russ-Hall, Sophie J; Scheffer, Ingrid E; Sully, Krystal; Syrbe, Steffen; Vaher, Ulvi; Velayutham, Murugan; Vogt, Julie; Weiss, Shelly; Wirrell, Elaine; Zuberi, Sameer M; Lal, Dennis; Møller, Rikke S; Mantegazza, Massimo; Cestèle, Sandrine

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries

欧洲和非欧洲国家中与种族相关的DMD基因型分布

Selvatici, Rita; Rossi, Rachele; Fortunato, Fernanda; Trabanelli, Cecilia; Sifi, Yamina; Margutti, Alice; Neri, Marcella; Gualandi, Francesca; Szabò, Lena; Fekete, Balint; Angelova, Lyudmilla; Litvinenko, Ivan; Ivanov, Ivan; Vildan, Yurtsever; Iuhas, Oana Alexandra; Vintan, Mihaela; Burloiu, Carmen; Lacramioara, Butnariu; Visa, Gabriela; Epure, Diana; Rusu, Cristina; Vasile, Daniela; Sandu, Magdalena; Vlodavets, Dmitry; Mager, Monica; Kyriakides, Theodore; Delin, Sanja; Lehman, Ivan; Fureš, Jadranka Sekelj; Bojinova, Veneta; Militaru, Mariela; Guergueltcheva, Velina; Burnyte, Birute; Molnar, Maria Judith; Butoianu, Niculina; Bensemmane, Selma Dounia; Makri-Mokrane, Samira; Herczegfalvi, Agnes; Panzaru, Monica; Emandi, Adela Chirita; Lusakowska, Anna; Potulska-Chromik, Anna; Kostera-Pruszczyk, Anna; Shatillo, Andriy; Khelladi, Djawed Bouchenak; Dendane, Oussama; Fang, Mingyan; Lu, Zhiyuan; Ferlini, Alessandra

Societal Cost of Ischemic Stroke in Romania: Results from a Retrospective County-Level Study

罗马尼亚缺血性中风的社会成本:一项回顾性县级研究的结果

Strilciuc, Stefan; Grad, Diana Alecsandra; Mixich, Vlad; Stan, Adina; Buzoianu, Anca Dana; Vladescu, Cristian; Vintan, Mihaela Adela

Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability

MLPA技术在全面发育迟缓/智力障碍中检测复发性拷贝数变异的诊断价值

Miclea, Diana; Szucs, Adriana; Mirea, Andreea; Stefan, Delia-Maria; Nazarie, Florina; Bucerzan, Simona; Lazea, Cecilia; Grama, Alina; Pop, Tudor Lucian; Farcas, Marius; Zaharie, Gabriela; Matyas, Melinda; Mager, Monica; Vintan, Mihaela; Popp, Radu; Alkhzouz, Camelia

Hemimegalencephaly with polymicrogyria - a case report

伴有多小脑回的半侧巨脑畸形一例报告

Raus, Iulian; Vintan, Adela Mihaela; Coroiu, Roxana Elena