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

A Unique Patient Stratification Method Combined with a Machine Learning Approach Identifies Novel Genetic Susceptibility and Protective Factors for Severe COVID-19 in a Hungarian Population

一种独特的患者分层方法结合机器学习方法,识别出匈牙利人群中新冠肺炎重症的新型遗传易感因素和保护因素

Neller, Alexandra; Bukva, Mátyás; Gálik, Bence; Kun, József; Nagy, Nikoletta; Somogyvári, Ferenc; Endrész, Valéria; Pál, Margit; Bokor, Barbara Anna; Blazovich, Zsófia; Visnyovszky, Ádám; Bende, Balázs; Urbán, Péter; Kovácsné Levang, Szilvia; Péterfi, Zoltán; Kovács, Gábor L; Gombos, Katalin; Gyenesei, Attila; Széll, Márta

Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss

在匈牙利一个患有常染色体显性非综合征性听力损失的家族中检测到TRRAP基因的新型致病变异

Nagy, Nikoletta; Szalenko-Tőkés, Ágnes; Pál, Margit; Bokor, Barbara Anna; Nagy, Roland; Jarabin, János András; Róvó, László; Széll, Márta

A Novel Germline Frameshift Variant in the Tumor Suppressor Gene OBSCN in a Melanoma Patient

黑色素瘤患者肿瘤抑制基因OBSCN中一种新的种系移码变异

Bokor, Barbara Anna; Abdolreza, Aliasgari; Pál, Margit; Battyani, Zita; Széll, Márta; Nagy, Nikoletta

Novel Presentation of Sturge-Weber Syndrome in a Boy With a Port-Wine Birthmark

一例患有葡萄酒色斑的男孩的Sturge-Weber综合征的新表现

Folga, Barbara Anna; Shahid, Ramzan

Novel FANCI and RAD54B Variants and the Observed Clinical Outcomes in a Hungarian Melanoma Cohort

匈牙利黑色素瘤队列中新型FANCI和RAD54B变异体及其观察到的临床结果

Bokor, Barbara Anna; Abdolreza, Aliasgari; Kaptás, Flóra; Pál, Margit; Battyani, Zita; Széll, Márta; Nagy, Nikoletta

Long-term outcomes and reverse remodelling in recently diagnosed unexplained left ventricular systolic dysfunction

近期诊断的不明原因左心室收缩功能障碍的长期预后和逆向重塑

Kuchynka, Petr; Podzimkova, Jana; Marek, Josef; Danek, Barbara Anna; Vitkova, Ivana; Kreidlova, Miluse; Roblova, Lenka; Kovarnik, Tomas; Simek, Stanislav; Horak, Jan; Habasko, Jan; Linhart, Ales; Palecek, Tomas

A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder

一名患有CTNNB1神经发育障碍的匈牙利患者中发现了一种新的从头突变截断变异

Nagy, Nikoletta; Pál, Margit; Nagy, Dóra; Bokor, Barbara Anna; Zimmermann, Aliz; Gellén, Balázs; Salamon, András; Sztriha, László; Klivényi, Péter; Széll, Márta

Chlamydia trachomatis-An Emerging Old Entity?

沙眼衣原体——一种正在兴起的古老实体?

Grygiel-Górniak, Bogna; Folga, Barbara Anna

SARS-CoV-2 infection in the context of Kawasaki disease and multisystem inflammatory syndrome in children

儿童川崎病和多系统炎症综合征背景下的SARS-CoV-2感染

Folga, Barbara Anna; Karpenko, Corrinna Jade; Grygiel-Górniak, Bogna

Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS

全外显子组测序在BCNS中鉴定出PTCH1基因的两个新的致病突变

Pál, Margit; Vetró, Éva; Nagy, Nikoletta; Nagy, Dóra; Horváth, Emese; Bokor, Barbara Anna; Varga, Anita; Seres, László; Oláh, Judit; Piffkó, József; Széll, Márta