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

Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome.

内皮细胞中 PTEN 的体细胞单亲二体性导致 PTEN 错构瘤肿瘤综合征患者出现血管畸形

Castillo Sandra D, Perosanz Xabier, Ressler Andrew K, Ivars Marta, Rodríguez Jairo, Rovira Carlota, Nola Emanuele M, Llena Judith, Grego-Bessa Joaquim, Roldán Mónica, Arnau Raquel, Martínez-Romero Anabel, Barber Ignasi, Bejarano Miguel, Vicente Asunción, Celis Verónica, Salvador Héctor, Mora Jaume, Marchuk Douglas A, Baselga Eulalia, Graupera Mariona

Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene

由NIPAL4基因复合杂合变异引起的变异性红斑角化症

Sánchez-Espino, Luis Fernando; Ivars, Marta; Vicente-López, Asunción; Prat-Torres, Carolina; Armstrong-Morón, Judith; Baselga, Eulalia

Phenotypic Spectrum of GNA11 R183C Mosaicism

GNA11 R183C 嵌合体的表型谱

Zhang, Donglin; Sánchez-Espino, Luis Fernando; Ivars, Marta; Pope, Elena; Nopper, Amy J; Arkin, Lisa M; Tollefson, Megha M; Lavarino, Cinzia E; Muldowney, Maya; Olaciregui, Nagore Gené; Paco, Sonia; Drolet, Beth A; Baselga, Eulàlia

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache

Sturge-Weber综合征:病理生理学、遗传学、临床特征和当前治疗方法的综述

Sánchez-Espino, Luis Fernando; Ivars, Marta; Antoñanzas, Javier; Baselga, Eulalia

Anti-Desmocollin Autoantibodies in Autoimmune Blistering Diseases

自身免疫性大疱性疾病中的抗桥粒蛋白自身抗体

Bosch-Amate, Xavier; Iranzo, Pilar; Ivars, Marta; Mascaró Galy, José Manuel; España, Agustín