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

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

MDGA2纯合功能缺失变异会导致发育性和癫痫性脑病。

Morsy, Heba; Kim, Hyeonho; Jang, Gyubin; Zaki, Maha S; Severino, Mariasavina; Abdelrazek, Ibrahim M; Hussien, Haytham; Self, Eleanor; Albaradie, Raidah Saleem; Bakur, Khadijah; Firoozfar, Zahra; Efthymiou, Stephanie; Noureldeen, Mahmoud M; Nabil, Amira; Alvi, Javeria Raza; Molavi, Fateme; Alavi, Shahryar; Alibakhshi, Reza; Topcu, Vehap; Mancilar, Hanifenur; Uctepe, Eyyup; Yesilyurt, Ahmet; Aldhalaan, Hesham; Showki Tous, Ehab Salah; Alhaddad, Bader; Elbendary, Hasnaa M; Scardamaglia, Annarita; Murphy, David; Yépez, Vicente A; Gagneur, Julien; Omar, Tarek I; Abd Elmaksoud, Marwa; Vandrovocova, Jana; Abdalla, Ebtessam; Reilly, Mary M; Sultan, Tipu; Alkuraya, Fowzan S; Gleeson, Joseph G; Um, Ji Won; Houlden, Henry; Ko, Jaewon; Maroofian, Reza

Patient-specific CFD modeling of CSF flow in Chiari I malformation: denticulate-ligament-induced compartmentalization explains flow patterns

基于个体化CFD模型的Chiari I型畸形脑脊液流动研究:齿状韧带诱导的分隔解释了流动模式

Nozaleda, Guillermo L; Parras-Martos, Francisco J; Yamamoto, Carolyna; Coenen, Wilfried; Martínez-Bazán, Carlos; Olivares-Granados, Gonzalo; Cordero-Tous, Nicolás; Ravindra, Vijay M; Gutiérrez-Montes, Cándido; Sánchez, Antonio L

Epigenetic and metabolic rewiring in metastatic pheochromocytomas and paragangliomas driven by SDHB mutations.

SDHB 突变驱动的转移性嗜铬细胞瘤和副神经节瘤的表观遗传和代谢重编程。

Cubiella Tamara, Alba-Linares Juan José, San-Juan-Guardado Jaime, Suarez-Priede Alvaro, Gómez-Suárez Nerea, Tous Maria, Bancos Irina, Villabona Carles, Serrano Teresa, Tena Isabel, Del Olmo Maribel, Forga Lluis, Valdés Nuria, Fraga Mario F, Chiara María-Dolores

Anogenital Contact Dermatitis in Spain: A REIDAC Study of Patients Undergoing Patch Testing in 2019-2024

西班牙肛门生殖器接触性皮炎:一项针对2019-2024年接受斑贴试验患者的REIDAC研究

Grau-Pérez, Mercè; Mercader-García, Pedro; Giménez-Arnau, Ana María; Sanz-Sánchez, Tatiana; Ninet, Violeta Zaragoza; Guijarro, Susana Córdoba; Miquel, Francisco Javier Miquel; Salvador, Juan Francisco Silvestre; González-Pérez, Ricardo; González, Inmaculada Ruíz; Baldrich, Esther Serra; Carrascosa, José Manuel; de Frutos, Francisco Javier Ortiz; Serna, Mercedes Rodríguez; Ortega, María Elena Gatica; Suárez, Carmen Paredes; Triviño, Francisco José Navarro; Chicharro, Pablo; Andreu, Marta; Gilo, Araceli Sánchez; Pereyra Rodríguez, José Juan; Nieto, María Antonia Pastor; Melé-Ninot, Gemma; Guillén, Paloma Sánchez-Pedreño; de la Fuente, Enrique Gómez; Elosua-González, Marta; Munera-Campos, Mónica; Romero, Fátima Tous; Descalzo, Miguel Ángel; Borrego, Leopoldo

TiO(2) Nanoparticles Obtained by Green Synthesis: Characterization and Evaluation of Their Effect on the Self-Cleaning and Antifungal Properties of an Aqueous Paint-Type Coating

绿色合成法制备TiO(2)纳米粒子:表征及其对水性涂料自清洁和抗真菌性能的影响评价

Alcazar, Kendell; Tous, Laura; Herrera, Adriana; Martinez-Bernett, Dylan; Saba, Manuel

Upadacitinib for Atopic Dermatitis Involving Special and Sensitive Areas: Real-World Multicenter Outcomes in Hand, Head/Neck, and Genital Involvement

乌帕替尼治疗累及特殊和敏感部位的特应性皮炎:手部、头颈部和生殖器受累的真实世界多中心结果

Melgosa Ramos, Francisco Javier; Guillén-Climent, Santiago; Cavestany Rodriguez, Raquel; Sabater-Abad, Javier; Martorell, Antonio; Tous Romero, Fátima

Concordance and Acceptability of Self- Vs. Clinician-Collected Anorectal Swabs for HPV Genotyping in Gay, Bisexual and Other Men Who Have Sex With Men in Metropolitan Barcelona

巴塞罗那大都会区男同性恋、双性恋和其他男男性行为者中,自行采集与临床医生采集的肛门直肠拭子进行HPV基因分型的一致性和可接受性研究

Ferrera, Leila; Martínez-Riveros, Héctor; Saña, Miquel; Tous, Sara; Vega, Jaime; Sanchez-Llamas, Mónica; Sirera, Guillem; García, Jorge Néstor; Esteban, Ana; Pavón, Miquel Àngel; Alemany, Laia; Agustí, Cristina; Paytubi, Sònia

Perceptions, barriers, and facilitators of telemedicine adoption among physicians in Palestinian primary care: a cross-sectional study

巴勒斯坦基层医疗医生对远程医疗的认知、障碍和促进因素:一项横断面研究

Khatib, Shaimaa; Nazzal, Zaher; Tous, Islam; Baniode, Mohammad

Multiplexing light-inducible recombinases to control cell fate, Boolean logic, and cell patterning in mammalian cells

利用多重光诱导重组酶控制哺乳动物细胞的细胞命运、布尔逻辑和细胞模式形成

Tous, Cristina; Kinstlinger, Ian S; Rice, Maya E L; Deng, Jenny; Wong, Wilson W

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

ADAT3 变体破坏 ADAT tRNA 脱氨酶复合物的活性,并损害神经元迁移。

Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noémie; Salinas-Giegé, Thalia; VanNoy, Grace; England, Eleina M; Kern Lovgren, Alysia; O'Leary, Melanie; Chopra, Maya; Meave Ojeda, Naomi; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome; Mojarrad, Majid; Pais, Lynn S; Yeh, Rebecca C; Gable, Dustin L; Hashem, Mais O; Abdulwahab, Firdous; Rakiz Alqurashi, Muath; Sbeih, Loai Z; Adas Blanco, Omar Abu; Khater, Renad Abu; Oprea, Gabriela; Rad, Aboulfazl; Alzaidan, Hamad; Aldhalaan, Hesham; Tous, Ehab; Alsagheir, Afaf; Alowain, Mohammed; Tamim, Abdullah; Alfayez, Khowlah; Alhashem, Amal; Alnuzha, Aisha; Kamel, Mona; Al-Awam, Bashayer S; Elnaggar, Walaa; Almenabawy, Nihal; O'Donnell-Luria, Anne; Neil, Jennifer E; Gleeson, Joseph G; Walsh, Christopher A; Alkuraya, Fowzan S; AlAbdi, Lama; Elkhateeb, Nour; Selim, Laila; Srivastava, Siddharth; Nedialkova, Danny D; Drouard, Laurence; Romier, Christophe; Bayam, Efil; Godin, Juliette D