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

Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles

非致病性前突变范围强直性肌营养不良症2型等位基因的特征分析

Radvanszky, Jan; Hyblova, Michaela; Radvanska, Eva; Spalek, Peter; Valachova, Alica; Magyarova, Gabriela; Bognar, Csaba; Polak, Emil; Szemes, Tomas; Kadasi, Ludevit

A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients

癫痫患者9个SCN1A基因突变的基因型、功能改变及表型研究

Daniela Kluckova, Miriam Kolnikova, Lubica Lacinova, Bohumila Jurkovicova-Tarabova, Tomas Foltan, Viktor Demko, Ludevit Kadasi, Andrej Ficek, Andrea Soltysova

Technical and Methodological Aspects of Cell-Free Nucleic Acids Analyzes

无细胞核酸分析的技术和方法问题

Zuzana Pös, Ondrej Pös, Jakub Styk, Angelika Mocova, Lucia Strieskova, Jaroslav Budis, Ludevit Kadasi, Jan Radvanszky, Tomas Szemes

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase

苯丙氨酸羟化酶七种错义变体的结构和功能影响

Martina Pecimonova, Daniela Kluckova, Frantisek Csicsay, Kamila Reblova, Jan Krahulec, Dagmar Procházkova, Ludovit Skultety, Ludevit Kadasi, Andrea Soltysova

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy

在99名尿黑酸症患者中发现了12种新的HGD基因变异:重点关注意大利的“黑骨病”

Nemethova, Martina; Radvanszky, Jan; Kadasi, Ludevit; Ascher, David B; Pires, Douglas E V; Blundell, Tom L; Porfirio, Berardino; Mannoni, Alessandro; Santucci, Annalisa; Milucci, Lia; Sestini, Silvia; Biolcati, Gianfranco; Sorge, Fiammetta; Aurizi, Caterina; Aquaron, Robert; Alsbou, Mohammed; Lourenço, Charles Marques; Ramadevi, Kanakasabapathi; Ranganath, Lakshminarayan R; Gallagher, James A; van Kan, Christa; Hall, Anthony K; Olsson, Birgitta; Sireau, Nicolas; Ayoob, Hana; Timmis, Oliver G; Sang, Kim-Hanh Le Quan; Genovese, Federica; Imrich, Richard; Rovensky, Jozef; Srinivasaraghavan, Rangan; Bharadwaj, Shruthi K; Spiegel, Ronen; Zatkova, Andrea

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database

在尿黑酸症患者中鉴定出11种新的尿黑酸1,2-双加氧酶变体,并建立了一个基于LOVD的新型HGD突变数据库。

Zatkova, Andrea; Sedlackova, Tatiana; Radvansky, Jan; Polakova, Helena; Nemethova, Martina; Aquaron, Robert; Dursun, Ismail; Usher, Jeannette L; Kadasi, Ludevit

On the physiology and pathophysiology of antimicrobial peptides

抗菌肽的生理学和病理生理学研究

Pálffy, Roland; Gardlík, Roman; Behuliak, Michal; Kadasi, Ludevit; Turna, Jan; Celec, Peter