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

Varga, Lukas; Borecka, Silvia; Skopkova, Martina; Rambani, Vibhuti; Sklenar, Marek; Cipkova, Klaudia; Kickova, Terezia; Ugorova, Diana; Kabatova, Zuzana; Stanik, Juraj; Profant, Milan; Gasperikova, Daniela

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

Pavlenkova, Zuzana; Varga, Lukas; Borecka, Silvia; Karhanek, Miloslav; Huckova, Miloslava; Skopkova, Martina; Profant, Milan; Gasperikova, Daniela

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

Varga Lukas, Danis Daniel, Skopkova Martina, Masindova Ivica, Slobodova Zuzana, Demesova Lucia, Profant Milan, Gasperikova Daniela

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

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

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin

中欧罗姆人听力障碍人群中MARVELD2 (DFNB49) 基因突变——患病率、临床影响及共同起源

Mašindová, Ivica; Šoltýsová, Andrea; Varga, Lukáš; Mátyás, Petra; Ficek, Andrej; Hučková, Miloslava; Sůrová, Martina; Šafka-Brožková, Dana; Anwar, Saima; Bene, Judit; Straka, Slavomír; Janicsek, Ingrid; Ahmed, Zubair M; Seeman, Pavel; Melegh, Béla; Profant, Milan; Klimeš, Iwar; Riazuddin, Saima; Kádasi, Ľudevít; Gašperíková, Daniela