A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients von Kluckova, Daniela, Kolnikova, Miriam, Lacinova, Lubica, Jurkovicova-Tarabova, Bohumila, Foltan, Tomas, Demko, Viktor, Kadasi, Ludevit, Ficek, Andrej, Soltysova, Andrea

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Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing von Lojova, Ingrid, Kucharik, Marcel, Pös, Zuzana, Balaz, Andrej, Zatkova, Andrea, Tothova Tarova, Eva, Budis, Jaroslav, Kadasi, Ludevit, Szemes, Tomas, Radvanszky, Jan

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On the physiology and pathophysiology of antimicrobial peptides von Pálffy, Roland, Gardlík, Roman, Behuliak, Michal, Kadasi, Ludevit, Turna, Jan, Celec, Peter

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Genetic polymorphisms related to testosterone metabolism in intellectually gifted boys von Celec, Peter, Tretinárová, Denisa, Minárik, Gabriel, Ficek, Andrej, Szemes, Tomáš, Lakatošová, Silvia, Schmidtová, Eva, Turňa, Ján, Kádaši, Ľudevít, Ostatníková, Daniela

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Upgrading molecular diagnostics of myotonic dystrophies: Multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs von Radvansky, Jan, Ficek, Andrej, Kadasi, Ludevit

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High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism von Radvansky, Jan, Resko, Peter, Surovy, Milan, Minarik, Gabriel, Ficek, Andrej, Kadasi, Ludevit

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Technical and Methodological Aspects of Cell-Free Nucleic Acids Analyzes von Pös, Zuzana, Pös, Ondrej, Styk, Jakub, Mocova, Angelika, Strieskova, Lucia, Budis, Jaroslav, Kadasi, Ludevit, Radvanszky, Jan, Szemes, Tomas

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Alkaptonuria: Current Perspectives von Zatkova, Andrea, Ranganath, Lakshminarayan, Kadasi, Ludevit

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Comparison of different DNA binding fluorescent dyes for applications of high-resolution melting analysis von Radvanszky, Jan, Surovy, Milan, Nagyova, Emilia, Minarik, Gabriel, Kadasi, Ludevit

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Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients von Kluckova, Daniela, Kolnikova, Miriam, Medova, Veronika, Bognar, Csaba, Foltan, Tomas, Svecova, Lucia, Gnip, Andrej, Kadasi, Ludevit, Soltysova, Andrea, Ficek, Andrej

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Phenylalanine hydroxylase deficiency in the Slovak population: Genotype–phenotype correlations and genotype-based predictions of BH4-responsiveness von Polak, Emil, Ficek, Andrej, Radvanszky, Jan, Soltysova, Andrea, Urge, Otto, Cmelova, Eleonora, Kantarska, Dana, Kadasi, Ludevit

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Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children von Radvanska, Eva, Pos, Zuzana, Zatkova, Andrea, Hyblova, Michaela, Bauer, Frantisek, Szemes, Tomas, Kadasi, Ludevit, Radvanszky, Jan

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On the critical evaluation and confirmation of germline sequence variants identified using massively parallel sequencing von Kubiritova, Zuzana, Gyuraszova, Marianna, Nagyova, Emilia, Hyblova, Michaela, Harsanyova, Maria, Budis, Jaroslav, Hekel, Rastislav, Gazdarica, Juraj, Duris, Frantisek, Kadasi, Ludevit, Szemes, Tomas, Radvanszky, Jan

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Genetics and genomic medicine in Slovakia von Kadasi, Ludevít, Cisarik, Frantisek

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Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus von Radvanszky, Jan, Surovy, Milan, Polak, Emil, Kadasi, Ludevit

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

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Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles von Radvanszky, Jan, Hyblova, Michaela, Radvanska, Eva, Spalek, Peter, Valachova, Alica, Magyarova, Gabriela, Bognar, Csaba, Polak, Emil, Szemes, Tomas, Kadasi, Ludevit

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Deregulation of energetic metabolism in the clear cell renal cell carcinoma: A multiple pathway analysis based on microarray profiling von SOLTYSOVA, ANDREA, BREZA, JAN, TAKACOVA, MARTINA, FERUSZOVA, JANA, HUDECOVA, SONA, NOVOTNA, BARBORA, ROZBORILOVA, EVA, PASTOREKOVA, SILVIA, KADASI, LUDEVIT, KRIZANOVA, OLGA

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Mutation Screening of the HGD Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence von Sakthivel, Srinivasan, Zatkova, Andrea, Nemethova, Martina, Surovy, Milan, Kadasi, Ludevit, Saravanan, Madurai P.

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Thirty‐Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients von Nemethova, Martina, Bolcekova, Anna, Ilencikova, Denisa, Durovcikova, Darina, Hlinkova, Katarina, Hlavata, Anna, Kovacs, Laszlo, Kadasi, Ludevit, Zatkova, Andrea

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