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Complex phenotypes blur conventional borders between Say–Barber–Biesecker–Young–Simpson syndrome and genitopatellar syndrome

Clinical genetics, 2017-02, Vol.91 (2), p.339-343

2017

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Targeted next-generation sequencing in Slovak cardiomyopathy patients

Bratislava Medical Journal, 2019, Vol.120 (1), p.46-51

2019

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Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma

Neoplasma, 2013-01, Vol.60 (6), p.655-665

2013

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Alkaptonuria: Current Perspectives

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

2020

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Guidelines for complex genetic analysis of hereditary breast ovarian cancer syndrome in slovak population

Acta Facultatis Pharmaceuticae Universitatis Comenianae, 2015-12, Vol.62 (s11), p.2-7

2015

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The impact of thiopurine-S-methyltransferase genotype on the adverse drug reactions to azathioprine in patients with inflammatory bowel diseases

Bratislava Medical Journal, 2013, Vol.114 (4), p.199-205

2013

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GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis

Clinical genetics, 2005-12, Vol.68 (6), p.554-557

2005

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Prevalence of mutations in thiopurine S-methyltransferase gene among Slovak IBD patients

Bratislava Medical Journal, 2013, Vol.114 (6), p.330-332

2013

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The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Nature genetics, 1994-06, Vol.7 (2), p.169-175

1994

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P3.034 The analysis of LRRK 2 and parkin gene mutations in Slovakia

Parkinsonism & related disorders, 2009, Vol.15, p.S156-S157

2009

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Prevalence of mutations in thiopurine S-methyltransferase gene among Slovak IBD patients

Bratislava Medical Journal, 2012, Vol.113 (5), p.282-284

2012

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Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma

Journal of medical genetics, 1999-04, Vol.36 (4), p.290-294

1999

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Mutation analysis of CFTR gene in Slovak CF patients

Journal of cystic fibrosis, 2009, Vol.8, p.S8-S8

2009

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Rapid detection methods for five HGO gene mutations causing alkaptonuria

Clinical genetics, 2003-02, Vol.63 (2), p.145-149

2003

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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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The expanding world of myotonic dystrophies: how can they be detected?

Genetic testing and molecular biomarkers, 2010-12, Vol.14 (6), p.733-741

2010

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Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing

Genetic testing and molecular biomarkers, 2011-03, Vol.15 (3), p.133-136

2011

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P195 – 2968: Novel mutations of the CDKL5 gene in patients with epileptic encephalopathy

European journal of paediatric neurology, 2015-05, Vol.19, p.S148-S148

2015

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Elevated immunoglobulin D levels in children with PFAPA syndrome

Neuro-endocrinology letters, 2010, Vol.31 (6), p.743-746

2010

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High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots

American journal of human genetics, 2000-11, Vol.67 (5), p.1333-1339

2000

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High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)

General physiology and biophysics, 2003-12, Vol.22 (4), p.549

2003

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Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4

Clinical genetics, 2003-09, Vol.64 (3), p.235-242

2003

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Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene : a cystic fibrosis mutation of slavic origin common in Central and East Europe

Human genetics, 2000-03, Vol.106 (3), p.259-268

2000

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Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria

Journal of medical genetics, 2000-07, Vol.37 (7), p.539-542

ZATKOVA, A

2000

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Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia

General physiology and biophysics, 2007-12, Vol.26 (4), p.306-310

2007

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Complex phenotypes blur conventional borders between Say–Barber–Biesecker–Young–Simpson syndrome and genitopatellar syndrome

Targeted next-generation sequencing in Slovak cardiomyopathy patients

Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma

Alkaptonuria: Current Perspectives

Guidelines for complex genetic analysis of hereditary breast ovarian cancer syndrome in slovak population

The impact of thiopurine-S-methyltransferase genotype on the adverse drug reactions to azathioprine in patients with inflammatory bowel diseases

GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis

Prevalence of mutations in thiopurine S-methyltransferase gene among Slovak IBD patients

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

P3.034 The analysis of LRRK 2 and parkin gene mutations in Slovakia

Prevalence of mutations in thiopurine S-methyltransferase gene among Slovak IBD patients

Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma

Mutation analysis of CFTR gene in Slovak CF patients

Rapid detection methods for five HGO gene mutations causing alkaptonuria

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

The expanding world of myotonic dystrophies: how can they be detected?

Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing

P195 – 2968: Novel mutations of the CDKL5 gene in patients with epileptic encephalopathy

Elevated immunoglobulin D levels in children with PFAPA syndrome

High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots

High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene : a cystic fibrosis mutation of slavic origin common in Central and East Europe

Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria

Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia

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