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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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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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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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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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Detection of His1069Gln mutation in Wilson disease by bidirectional PCR amplification of specific alleles (BI-PASA) test

General physiology and biophysics, 2007-06, Vol.26 (2), p.91-96

2007

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Long distance PCR in detection of inversion mutations of F8C gene in hemophilia A patients

General physiology and biophysics, 2003-06, Vol.22 (2), p.243

2003

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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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Targeted next-generation sequencing in Slovak cardiomyopathy patients

Bratislavské lékarské listy, 2019, Vol.120 (1), p.46-51

2019

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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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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

2013

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Linkage of Autosomal Recessive Primary Congenital Glaucoma to the GLC3A Locus in Roms (Gypsies) from Slovakia

Human heredity, 1998-01, Vol.48 (1), p.30-33

1998

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Analysis of the SMN and NAIP Genes in Slovak Spinal Muscular Atrophy Patients

Human heredity, 2000-05, Vol.50 (3), p.171-174

2000

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Alkaptonuria: Current Perspectives

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

2020

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Factor VIII Gene Inversions in Haemophilia A Patients of Slovakia

Human heredity, 1998-01, Vol.48 (1), p.34-37

1998

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A New Extremely Large Allele at the D1S80 (MCT118) Locus

Journal of forensic sciences, 1995-09, Vol.40 (5), p.906-907

1995

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

Bratislavské lékarské listy, 2013, Vol.114 (4), p.199-205

2013

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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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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

Bratislavské lékarské listy, 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

Bratislavské lékarské listy, 2012, Vol.113 (5), p.282-284

2012

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

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)

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

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

Detection of His1069Gln mutation in Wilson disease by bidirectional PCR amplification of specific alleles (BI-PASA) test

Long distance PCR in detection of inversion mutations of F8C gene in hemophilia A patients

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

Targeted next-generation sequencing in Slovak cardiomyopathy patients

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

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

Linkage of Autosomal Recessive Primary Congenital Glaucoma to the GLC3A Locus in Roms (Gypsies) from Slovakia

Analysis of the SMN and NAIP Genes in Slovak Spinal Muscular Atrophy Patients

Alkaptonuria: Current Perspectives

Factor VIII Gene Inversions in Haemophilia A Patients of Slovakia

A New Extremely Large Allele at the D1S80 (MCT118) Locus

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

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

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

Mutation analysis of CFTR gene in Slovak CF patients

Rapid detection methods for five HGO gene mutations causing alkaptonuria

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