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

Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients

在大样本听力障碍和糖尿病患者队列中筛查母系遗传性糖尿病和耳聋

期刊:Ear and Hearing
影响因子:2.8
doi:10.1097/AUD.0000000000001780
Varga, Lukas; Borecka, Silvia; Skopkova, Martina; Rambani, Vibhuti; Sklenar, Marek; Cipkova, Klaudia; Kickova, Terezia; Ugorova, Diana; Kabatova, Zuzana; Stanik, Juraj; Profant, Milan; Gasperikova, Daniela
糖尿病
代谢
发表日期：2026
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Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

前庭导水管扩大和彭德雷德综合征患者的遗传异质性

期刊:Molecular Medicine
影响因子:6.4
doi:10.1186/s10020-025-01262-x
Sklenar Marek, Borecka Silvia, Varga Lukas, Bernardinelli Emanuele, Stanik Juraj, Skopkova Martina, Sabo Miroslav, Ugorova Diana, Dossena Silvia, Gasperikova Daniela
发表日期：2025
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Variants influencing age at diagnosis of HNF1A-MODY

影响HNF1A-MODY诊断年龄的变异

期刊:Molecular Medicine
影响因子:6.4
doi:10.1186/s10020-022-00542-0
Ludwig-Słomczyńska, Agnieszka H; Seweryn, Michał T; Radkowski, Piotr; Kapusta, Przemysław; Machlowska, Julita; Pruhova, Stepanka; Gasperikova, Daniela; Bellanne-Chantelot, Christine; Hattersley, Andrew; Kandasamy, Balamurugan; Letourneau-Freiberg, Lisa; Philipson, Louis; Doria, Alessandro; Wołkow, Paweł P; Małecki, Maciej T; Klupa, Tomasz
NF1
发表日期：2022
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Serum Afamin a Novel Marker of Increased Hepatic Lipid Content

血清Afamin是肝脏脂质含量增加的一种新型标志物

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2021.670425
Kurdiova, Timea; Balaz, Miroslav; Kovanicova, Zuzana; Zemkova, Erika; Kuzma, Martin; Belan, Vitazoslav; Payer, Juraj; Gasperikova, Daniela; Dieplinger, Hans; Ukropcova, Barbara; Ukropec, Jozef
发表日期：2021
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Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss

中频感音神经性听力损失的综合分子遗传学分析

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-021-01876-1
Pavlenkova, Zuzana; Varga, Lukas; Borecka, Silvia; Karhanek, Miloslav; Huckova, Miloslava; Skopkova, Martina; Profant, Milan; Gasperikova, Daniela
发表日期：2021
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Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

MANBA基因的c.2158-2A>G变异是捷克和斯洛伐克罗姆人遗传性听力损失和β-甘露糖苷酶缺乏症的重要且常见的病因——这是新的种族特异性变异的证据。

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-020-01508-3
Safka Brozkova, Dana; Varga, Lukas; Uhrova Meszarosova, Anna; Slobodova, Zuzana; Skopkova, Martina; Soltysova, Andrea; Ficek, Andrej; Jencik, Jan; Lastuvkova, Jana; Gasperikova, Daniela; Seeman, Pavel
发表日期：2020
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Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.

斯洛伐克家族中发现一种新的EYA4变异，导致晚发性常染色体显性遗传性听力损失：病例报告

期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-019-0806-y
Varga Lukas, Danis Daniel, Skopkova Martina, Masindova Ivica, Slobodova Zuzana, Demesova Lucia, Profant Milan, Gasperikova Daniela
发表日期：2019
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Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents

对早发性重度肥胖儿童和青少年单心基因1的遗传分析

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0177222
Stanikova, Daniela; Buzga, Marek; Krumpolec, Patrik; Skopkova, Martina; Surova, Martina; Ukropcova, Barbara; Ticha, Lubica; Petrasova, Miroslava; Gabcova, Dominika; Huckova, Miroslava; Piskorova, Lucie; Bozensky, Jan; Mokan, Marian; Ukropec, Jozef; Zavacka, Ivona; Klimes, Iwar; Stanik, Juraj; Gasperikova, Daniela
肥胖
代谢
发表日期：2017
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Concordance of bioactive vs. total immunoreactive serum leptin levels in children with severe early onset obesity

严重早发性肥胖儿童血清中生物活性瘦素与总免疫反应性瘦素水平的一致性

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0178107
Stanik, Juraj; Kratzsch, Jürgen; Landgraf, Kathrin; Scheuermann, Kathrin; Spielau, Ulrike; Gausche, Ruth; Gasperikova, Daniela; Kiess, Wieland; Körner, Antje
代谢
肥胖
免疫/内分泌
发表日期：2017
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Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.

MARVELD2 的分子遗传学和巴基斯坦和斯洛伐克家族中 DFNB49 听力损失的临床表型

期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-015-1532-y
Nayak Gowri, Varga Lukas, Trincot Claire, Shahzad Mohsin, Friedman Penelope L, Klimes Iwar, Greinwald John H Jr, Riazuddin S Amer, Masindova Ivica, Profant Milan, Khan Shaheen N, Friedman Thomas B, Ahmed Zubair M, Gasperikova Daniela, Riazuddin Sheikh, Riazuddin Saima
其它
发表日期：2015
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