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

Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis

基因检测和遗传性转甲状腺素蛋白淀粉样变性热点区域的创始突变证据

Ventayol-Guirado, Marc; Cisneros-Barroso, Eugenia; Ribot-Sanso, Maria Antonia; Gonzalez-Moreno, Juan; Losada, Ines; Ripoll-Vera, Tomas; Pons, Jaume; Fortuny, Elena; Bosch, Teresa; Figuerola, Antonio; Descals, Cristina; Montala, Joan Carles; Alvarez-Rubio, Jorge; Hernandez-Rodriguez, Jessica; Lustre-Rodriguez, Jose; Llull-Alberti, Maria Victoria; Jimenez-Barcelo, Juan Antonio; Asensio-Landa, Victor Jose; Torres-Juan, Laura; Martinez-Lopez, Iciar; Buades-Reines, Juan; Heine-Suñer, Damian

Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease

安德森-法布里病中携带 p.Arg301Gln GLA 变异的患者的表型表达和预后

Blanco, Rocío; Rico-Ramírez, Yolanda; Hermida-Ameijeiras, Álvaro; Abdullah, Israa Mahmoud Sanad; Lau, Kolja; Alvarez-Rubio, Jorge; Fortuny, Elena; Martínez-Monzonís, Amparo; Nowak, Albina; Nordbeck, Peter; Veras-Burgos, Carlos; Pons-Llinares, Jaume; Rossi, Emiliano; Caimi-Martínez, Fiama; Bosch-Rovira, Teresa; Alamar-Cervera, Marta; Ruiz-Pizarro, Virginia; Torres-Juan, Laura; Heine-Suñer, Damian; Ripoll-Vera, Tomás

Acral Extragenital Lichen Sclerosus and Its Dermoscopic Findings

肢端外生殖器硬化性苔藓及其皮肤镜检查结果

Alvarez-Rubio, Francisco Javier; Tarango-Martinez, Víctor Manuel

Acute-on-Chronic Liver Failure Triggered by Cutaneous Loxoscelism

皮肤洛克索斯虫病引发的慢性肝衰竭急性发作

Alvarez-Rubio, Francisco Javier; Robles-Tenorio, Arturo; Tarango-Martínez, Víctor Manuel

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure

携带丝状蛋白C截断变异体的患者中,左心室收缩功能障碍与频繁室性心律失常和终末期心力衰竭相关

Akhtar, Mohammed Majid; Lorenzini, Massimiliano; Pavlou, Menelaos; Ochoa, Juan Pablo; O'Mahony, Constantinos; Restrepo-Cordoba, Maria Alejandra; Segura-Rodriguez, Diego; Bermúdez-Jiménez, Francisco; Molina, Pilar; Cuenca, Sofia; Ader, Flavie; Larrañaga-Moreira, Jose M; Sabater-Molina, Maria; Garcia-Alvarez, Maria I; Arantzamendi, Larraitz Gaztañaga; Truszkowska, Grazyna; Ortiz-Genga, Martin; Ruiz, Itziar Solla; Nielsen, Søren Kristian; Rasmussen, Torsten Bloch; Robles Mezcua, Ainhoa; Alvarez-Rubio, Jorge; Eiskjaer, Hans; Gautel, Mathias; Garcia-Pinilla, José M; Ripoll-Vera, Tomas; Mogensen, Jens; Limeres Freire, Javier; Rodríguez-Palomares, Jose F; Peña-Peña, Maria Luisa; Rangel-Sousa, Diego; Palomino-Doza, Julian; Arana Achaga, Xabier; Bilinska, Zofia; Zamarreño Golvano, Estibaliz; Climent, Vincent; Peñalver, Marina Navarro; Barriales-Villa, Roberto; Charron, Philippe; Yotti, Raquel; Zorio, Esther; Jiménez-Jáimez, Juan; Garcia-Pavia, Pablo; Elliott, Perry M

Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death

病例报告:一例先天性心脏缺陷、左心室致密化不全、传导障碍和猝死家族中发现的新型NKX2-5基因突变

Morlanes-Gracia, Paula; Antoniutti, Guido; Alvarez-Rubio, Jorge; Torres-Juan, Laura; Heine-Suñer, Damian; Ripoll-Vera, Tomás

Hypertrophic cardiomyopathy with little hypertrophy and severe arrhythmia

肥厚型心肌病,伴有轻微肥厚和严重心律失常

Ripoll-Vera, Tomas; Alvarez-Rubio, Jorge

Pharmacist intervention in treatment of patients with genotype 1 chronic hepatitis C

药剂师在治疗1型基因型慢性丙型肝炎患者中的干预作用

Marino, Eduardo L; Alvarez-Rubio, Luis; Miro, Silvia; Modamio, Pilar; Banos, Fernando; Lastra, Cecilia F; Alberdi-Leniz, Aintzane