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

Artificial Intelligence in the Diagnosis of Pediatric Rare Diseases: From Real-World Data Toward a Personalized Medicine Approach

人工智能在儿童罕见病诊断中的应用:从真实世界数据迈向个性化医疗

Ilić, Nikola; Sarajlija, Adrijan

The Artificial Intelligence-Assisted Diagnosis of Skeletal Dysplasias in Pediatric Patients: A Comparative Benchmark Study of Large Language Models and a Clinical Expert Group

人工智能辅助诊断儿童骨骼发育不良:大型语言模型与临床专家组的比较基准研究

Ilić, Nikola; Marić, Nina; Cvetković, Dimitrije; Bogosavljević, Marko; Bukara-Radujković, Gordana; Krstić, Jovana; Paunović, Zoran; Begović, Ninoslav; Panić Zarić, Sanja; Todorović, Slađana; Mitrović, Katarina; Vlahović, Aleksandar; Sarajlija, Adrijan

Case Report: A thrombosis of ductus arteriosus aneurysm involving the left pulmonary artery in a full-term newborn with isolated right ventricular hypoplasia

病例报告:足月新生儿孤立性右心室发育不全合并左肺动脉动脉导管瘤血栓形成

Krasic, Stasa; Djorovic, Nevena; Dizdarevic, Ivan; Topic, Vesna; Ilic, Nikola; Sarajlija, Adrijan; Aleksic, Dragana; Vukomanovic, Vladislav

Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?

对发育迟缓/智力障碍儿童进行全外显子组测序后进行反向表型分析——是例外还是必要之举?

Ilic, Nikola; Maric, Nina; Maver, Ales; Armengol, Lluis; Kravljanac, Ruzica; Cirkovic, Jana; Krstic, Jovana; Radivojevic, Danijela; Cirkovic, Sanja; Ostojic, Slavica; Krasic, Stasa; Paripovic, Aleksandra; Vukomanovic, Vladislav; Peterlin, Borut; Maric, Gorica; Sarajlija, Adrijan

Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study

努南综合征:基因型与心血管表型的关系——一项多中心回顾性研究

Ilic, Nikola; Krasic, Stasa; Maric, Nina; Gasic, Vladimir; Krstic, Jovana; Cvetkovic, Dimitrije; Miljkovic, Vesna; Zec, Boris; Maver, Ales; Vukomanovic, Vladislav; Sarajlija, Adrijan

Age-specific causes of upper gastrointestinal bleeding in children

儿童上消化道出血的年龄特异性病因

Kocic, Marija; Rasic, Petar; Marusic, Vuk; Prokic, Dragan; Savic, Djordje; Milickovic, Maja; Kitic, Ivana; Mijovic, Tanja; Sarajlija, Adrijan

Secreted Phospholipases A(2) - not just Enzymes: Revisited

分泌型磷脂酶A(2)——不仅仅是酶:再探

Ivanušec, Adrijan; Šribar, Jernej; Križaj, Igor

The neurotoxic secreted phospholipase A(2) from the Vipera a. ammodytes venom targets cytochrome c oxidase in neuronal mitochondria

来自印度蝰蛇(Vipera a. ammodytes)毒液的神经毒性分泌型磷脂酶A(2)靶向神经元线粒体中的细胞色素c氧化酶。

Šribar, Jernej; Kovačič, Lidija; Oberčkal, Jernej; Ivanušec, Adrijan; Petan, Toni; Fox, Jay W; Križaj, Igor

WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype

WDR45 突变可能导致 MECP2 突变阴性的雷特综合征表型

Kulikovskaja, Leonora; Sarajlija, Adrijan; Savic-Pavicevic, Dusanka; Dobricic, Valerija; Klein, Christine; Westenberger, Ana

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

两名互不相关的安格曼综合征患者UBE3A基因内存在新的基因内缺失:病例报告及文献综述

Aguilera, Cinthia; Viñas-Jornet, Marina; Baena, Neus; Gabau, Elisabeth; Fernández, Concepción; Capdevila, Nuria; Cirkovic, Sanja; Sarajlija, Adrijan; Miskovic, Marijana; Radivojevic, Danijela; Ruiz, Anna; Guitart, Miriam