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

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants

对疑似患有遗传性癌症的未确诊欧洲患者进行基因组测序:诊断率和候选致病变异的鉴定

Martins, Nelson; Terradas, Mariona; Garcia-Pelaez, José; Sommer, Anna K; Demidov, German; Matalonga, Leslie; Ramos-Muntada, Mireia; Te Paske, Iris B A W; Spier, Isabel; Mensenkamp, Arjen; Schuurs-Hoeijmakers, Janneke; Gullo, Irene; São José, Celina; Pedro, Ana Maria; Gouveia Silva, Raquel; Sousa, Ana Berta; Amoroso Canão, Pedro; Fernandes, Susana; Garrido, Luzia; Dupont, Juliette; Maia, Sofia; Sousa, Gabriela; Irmejs, Arvids; Barili, Valeria; Blatnik, Ana; Rofes, Paula; Brunet, Joan; Capellá, Gabriel; Laurie, Steven; Lázaro, Conxi; Hoogerbrugge, Nicoline; de Voer, Richarda M; Aretz, Stefan; Oliveira, Carla; Valle, Laura

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate

TP53种系检测与遗传性癌症:体细胞事件和临床标准如何影响变异检出率

Rofes, Paula; Castillo-Manzano, Carmen; Menéndez, Mireia; Teulé, Álex; Iglesias, Sílvia; Munté, Elisabet; Ramos-Muntada, Mireia; Gómez, Carolina; Tornero, Eva; Darder, Esther; Montes, Eva; Valle, Laura; Capellá, Gabriel; Pineda, Marta; Brunet, Joan; Feliubadaló, Lidia; Del Valle, Jesús; Lázaro, Conxi

From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity.

从罕见到常见:西班牙多中心研究中关于 COVID-19 严重程度的 TLR7 变异的遗传学见解

Antolí Arnau, Vargas-Parra Gardenia, Sierra-Fortuny Angels, Gomez-Vazquez Jose Luis, Rofes Paula, Munté Elisabet, Viana-Errasti Julen, Marín-Montes Raúl, López-Doriga Adriana, Feliubadaló Lidia, Del Valle Jesús, Pérez-González Alexandre, Poveda Eva, Solanich Xavier, Lázaro Conxi

Leveraging relatedness-based measures in people with language disorders: A scoping review

利用基于关联性的测量方法治疗语言障碍患者:一项范围界定综述

Gaudet, Logan A; Rybka, Lena; Mandonnet, Emmanuel; Volle, Emmanuelle; Barberis, Marion; Jonkers, Roel; Rofes, Adrià

Biological basis of extensive pleiotropy between blood traits and cancer risk

血液特征与癌症风险之间广泛多效性的生物学基础

Miguel Angel Pardo-Cea #, Xavier Farré #, Anna Esteve #, Joanna Palade #, Roderic Espín #, Francesca Mateo, Eric Alsop, Marc Alorda, Natalia Blay, Alexandra Baiges, Arzoo Shabbir, Francesc Comellas, Antonio Gómez, Montserrat Arnan, Alex Teulé, Monica Salinas, Laura Berrocal, Joan Brunet, Paula Rofes

Preoperative subjective impairments in language and memory in brain tumor patients

脑肿瘤患者术前语言和记忆方面的主观障碍

Rybka, Lena; Jonkers, Roel; Burzlaff, Milena; Rosenstock, Tizian; Vajkoczy, Peter; Picht, Thomas; Faust, Katharina; Rofes, Adrià

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation

林奇样综合征中错配修复基因的肿瘤分析:结果解读面临的挑战

Rofes, Paula; Dueñas, Núria; Del Valle, Jesús; Navarro, Matilde; Balmaña, Judith; Ramón Y Cajal, Teresa; Tuset, Noemí; Castillo, Carmen; González, Sara; Brunet, Joan; Capellá, Gabriel; Lázaro, Conxi; Pineda, Marta

What Drives Task Performance in Animal Fluency in Individuals Without Dementia? The SMART-MR Study

是什么因素驱动了非痴呆症患者在动物流畅性任务中的表现?SMART-MR 研究

Rofes, Adrià; Beran, Magdalena; Jonkers, Roel; Geerlings, Mirjam I; Vonk, Jet M J

Mapping action naming in patients with gliomas: The influence of transitivity

胶质瘤患者动作命名映射:传递性的影响

Ntemou, Effrosyni; Reisch, Klara; Burchert, Frank; Jonkers, Roel; Picht, Thomas; Rofes, Adrià

A Comparative Study on the Effect of Acute Pharyngeal Stimulation with TRP Agonists on the Biomechanics and Neurophysiology of Swallow Response in Patients with Oropharyngeal Dysphagia

急性咽部刺激联合色氨酸受体激动剂对口咽吞咽困难患者吞咽反应生物力学和神经生理学影响的比较研究

Tomsen, Noemí; Ortega, Omar; Alvarez-Berdugo, Daniel; Rofes, Laia; Clavé, Pere