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Technical and Methodological Aspects of Cell-Free Nucleic Acids Analyzes

International journal of molecular sciences, 2020-11, Vol.21 (22), p.8634

2020

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

Scientific reports, 2020-06, Vol.10 (1), p.10288, Article 10288

2020

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On the physiology and pathophysiology of antimicrobial peptides

Molecular medicine (Cambridge, Mass.), 2009-01, Vol.15 (1-2), p.51-59

2009

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

Journal of clinical medicine, 2021-08, Vol.10 (17), p.3934

2021

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Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase

Genes, 2019-06, Vol.10 (6), p.459

2019

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Genetic polymorphisms related to testosterone metabolism in intellectually gifted boys

PloS one, 2013-01, Vol.8 (1), p.e54751-e54751

2013

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Upgrading molecular diagnostics of myotonic dystrophies: Multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs

Molecular and cellular probes, 2011-08, Vol.25 (4), p.182-185

2011

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High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism

Analytical biochemistry, 2010-03, Vol.398 (1), p.126-128

2010

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Alkaptonuria: Current Perspectives

Application of clinical genetics, 2020-01, Vol.13, p.37-47

2020

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Comparison of different DNA binding fluorescent dyes for applications of high-resolution melting analysis

Clinical biochemistry, 2015-06, Vol.48 (9), p.609-616

2015

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Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients

Epilepsy research, 2021-10, Vol.176, p.106699-106699, Article 106699

2021

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Phenylalanine hydroxylase deficiency in the Slovak population: Genotype–phenotype correlations and genotype-based predictions of BH4-responsiveness

Gene, 2013-09, Vol.526 (2), p.347-355

2013

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Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children

Bratislava Medical Journal, 2022, Vol.123 (8), p.568-572

2022

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On the critical evaluation and confirmation of germline sequence variants identified using massively parallel sequencing

Journal of biotechnology, 2019-06, Vol.298, p.64-75

2019

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Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus

Neuromuscular disorders : NMD, 2013-07, Vol.23 (7), p.591-598

2013

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Deregulation of energetic metabolism in the clear cell renal cell carcinoma: A multiple pathway analysis based on microarray profiling

International journal of oncology, 2015-07, Vol.47 (1), p.287-295

2015

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Mutation Screening of the HGD Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence

Annals of human genetics, 2014-05, Vol.78 (3), p.155-164

2014

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Thirty‐Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients

Annals of human genetics, 2013-09, Vol.77 (5), p.364-379

2013

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Salmonella-mediated gene therapy in experimental colitis in mice

Experimental biology and medicine (Maywood, N.J.), 2011-02, Vol.236 (2), p.177-183

2011

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The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation

General physiology and biophysics, 2017-04, Vol.36 (2), p.205-210

2017

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Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection

General physiology and biophysics, 2016-07, Vol.35 (3), p.333-342

2016

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Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase

General physiology and biophysics, 2017-10, Vol.36 (4), p.361-371

2017

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Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing

Diagnostic molecular pathology, 2011-03, Vol.20 (1), p.48-51

2011

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Detection of mitochondrial haplogroups in a small avar‐slavic population from the eigth–ninth century AD

American journal of physical anthropology, 2018-03, Vol.165 (3), p.536-553

2018

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Technical and Methodological Aspects of Cell-Free Nucleic Acids Analyzes

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

On the physiology and pathophysiology of antimicrobial peptides

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

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase

Genetic polymorphisms related to testosterone metabolism in intellectually gifted boys

Upgrading molecular diagnostics of myotonic dystrophies: Multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs

High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism

Alkaptonuria: Current Perspectives

Comparison of different DNA binding fluorescent dyes for applications of high-resolution melting analysis

Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients

Phenylalanine hydroxylase deficiency in the Slovak population: Genotype–phenotype correlations and genotype-based predictions of BH4-responsiveness

Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children

On the critical evaluation and confirmation of germline sequence variants identified using massively parallel sequencing

Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus

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

Deregulation of energetic metabolism in the clear cell renal cell carcinoma: A multiple pathway analysis based on microarray profiling

Mutation Screening of the HGD Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence

Thirty‐Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients

Salmonella-mediated gene therapy in experimental colitis in mice

The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation

Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection

Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase

Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing

Detection of mitochondrial haplogroups in a small avar‐slavic population from the eigth–ninth century AD

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