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

Bilateral renal vein thrombosis in a preterm with Netherton syndrome

早产儿伴内瑟顿综合征双侧肾静脉血栓形成

Roche-Gomez, Ana; Voskanyan, Diana; Śladowska-Kozłowska, Joanna; Bassanese, Giulia; Schmitt, Claus Peter

Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review

拓展常染色体显性遗传ATP6V1A相关疾病谱:病例报告及文献综述

Sirchia, Fabio; Taietti, Ivan; Donesana, Myriam; Bassanese, Francesco; Clemente, Andrea Martina; Barbato, Eliana; Orsini, Alessandro; Ferretti, Alessandro; Marseglia, Gian Luigi; Savasta, Salvatore; Foiadelli, Thomas

Acneiform rash as a side effect of selumetinib in a child with neurofibromatosis type 1 treated for inoperable plexiform neurofibromas: Good results with doxycycline

一名患有1型神经纤维瘤病的儿童,因无法手术切除的丛状神经纤维瘤接受塞鲁米替尼治疗,出现痤疮样皮疹的副作用:多西环素治疗效果良好。

Volontè, Martina; Isoletta, Eugenio; Gordon, Shaul; Foiadelli, Thomas; Bassanese, Francesco; Rossi, Alessandra; Marseglia, Gian Luigi; Savasta, Salvatore; Brazzelli, Valeria

An Overview of The Role of Tumor Necrosis Factor-Alpha in Epileptogenesis and Its Terapeutic Implications

肿瘤坏死因子-α在癫痫发生中的作用及其治疗意义概述

Michev, Alexandre; Orsini, Alessandro; Santi, Viola; Bassanese, Francesco; Veraldi, Daniele; Brambilla, Ilaria; Marseglia, Gian Luigi; Savasta, Salvatore; Foiadelli, Thomas

The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results

欧洲罕见肾病登记处(ERKReg):目标、设计和初步结果

Bassanese, Giulia; Wlodkowski, Tanja; Servais, Aude; Heidet, Laurence; Roccatello, Dario; Emma, Francesco; Levtchenko, Elena; Ariceta, Gema; Bacchetta, Justine; Capasso, Giovambattista; Jankauskiene, Augustina; Miglinas, Marius; Ferraro, Pietro Manuel; Montini, Giovanni; Oh, Jun; Decramer, Stephane; Levart, Tanja Kersnik; Wetzels, Jack; Cornelissen, Elisabeth; Devuyst, Olivier; Zurowska, Aleksandra; Pape, Lars; Buescher, Anja; Haffner, Dieter; Marcun Varda, Natasa; Ghiggeri, Gian Marco; Remuzzi, Giuseppe; Konrad, Martin; Longo, Germana; Bockenhauer, Detlef; Awan, Atif; Andersone, Ilze; Groothoff, Jaap W; Schaefer, Franz

Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome

经典埃勒斯-当洛斯综合征中一种新型COL5A1致病变异的性染色体嵌合现象

Micale, Lucia; Foiadelli, Thomas; Russo, Federica; Cinque, Luigia; Bassanese, Francesco; Granatiero, Matteo; Fusco, Carmela; Savasta, Salvatore; Castori, Marco

Gender Differences at the Onset of Autoimmune Thyroid Diseases in Children and Adolescents

儿童和青少年自身免疫性甲状腺疾病发病时的性别差异

Calcaterra, Valeria; Nappi, Rossella E; Regalbuto, Corrado; De Silvestri, Annalisa; Incardona, Antonino; Amariti, Rossella; Bassanese, Francesco; Clemente, Andrea Martina; Vinci, Federica; Albertini, Riccardo; Larizza, Daniela

Adverse Effects of Ramadan Fasting in a Girl with Salt-Losing Congenital Adrenal Hyperplasia

斋月禁食对患有失盐型先天性肾上腺增生症女孩的不良影响

Calcaterra, Valeria; Bassanese, Francesco; Clemente, Andrea Martina; Amariti, Rossella; Regalbuto, Corrado; Sala, Anna; Zuccotti, Gian Vincenzo

Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature

生物素-硫胺素反应性脑病:一例埃及家族携带新型SLC19A3突变的病例报告及文献综述

Savasta, Salvatore; Bassanese, Francesco; Buschini, Chiara; Foiadelli, Thomas; Trabatti, Chiara; Efthymiou, Stephanie; Salpietro, Vincenzo; Houlden, Henry; Simoncelli, Annamaria; Marseglia, Gian Luigi