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23 IFRD1 polymorphisms as modifiers of severity of cystic fibrosis

Journal of cystic fibrosis, 2017-06, Vol.16, p.S69-S69

2017

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1 Implementing prenatal diagnosis of cystic fibrosis based on cell-free fetal DNA

Journal of cystic fibrosis, 2016-06, Vol.15, p.S51-S51

2016

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20 years of malignant hyperthermia in Czechia and Slovakia

Anesteziologie & intenzivní medicína, 2023-10, Vol.34 (3), p.103-109

2023

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5 Newborn screening of cystic fibrosis at University Hospital Brno, Czech Republic 2010–2016

Journal of cystic fibrosis, 2017-06, Vol.16, p.S64-S64

2017

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18 Two years experience with CF newborn screening in University Hospital Brno

Journal of cystic fibrosis, 2012-06, Vol.11, p.S59-S59

2012

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WS09.4 Next generation sequencing in newborn screening for cystic fibrosis

Journal of cystic fibrosis, 2020-06, Vol.19, p.S15-S16

2020

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Determination of amlodipine enantiomers in pharmaceuticals using capillary electrophoresis separation and diode array detection

Pharmazie, 2009-02, Vol.64 (2), p.76-79

2009

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Newborn screening for cystic fibrosis (NBSCF) in region Moravia, Czech Republic

Journal of cystic fibrosis, 2010, Vol.9, p.S9-S9

2010

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Enantiomeric purity control of levocetirizine in pharmaceuticals using anionic cyclodextrin mediated capillary electrophoresis separation and fiber-based diode array detection

Pharmazie, 2009-07, Vol.64 (7), p.423-427

2009

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G.P.14.07 RNA fluorescence in situ hybridization analysis of fetal tissues from a family affected by myotonic dystrophy

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.856-856

2007

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575T309I-Kv7.1 mutation as a feasible founder LQT1 mutation: clinical, genetic and biophysical analysis

Europace (London, England), 2017-06, Vol.19 (suppl_3), p.iii118-iii118

2017

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Comparison of capillary zone electrophoresis and isotachophoresis determination of dimethindene enantiomers in pharmaceuticals using charged carboxyethyl -β -cyclodextrin as a chiral selector

Methods and Findings in Experimental and Clinical Pharmacology, 2006-11, Vol.28 (9), p.595-599

2006

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Direct quantitative determination of amlodipine enantiomers in urine samples for pharmacokinetic study using on-line coupled isotachophoresis-capillary zone electrophoresis separation method with diode array detection

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2008-11, Vol.875 (1), p.266-272

2008

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Clay Minerals in Nature: Their Characterization, Modification and Application

2012

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4 Multiplex amplification of specific targets for resequencing using next generation sequencing technology, applied in molecular diagnostics of cystic fibrosis

Journal of cystic fibrosis, 2013-06, Vol.12, p.S48-S48

2013

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35 Neonatal screening for cystic fibrosis – A new experience for genetic counseling

Journal of cystic fibrosis, 2013-06, Vol.12, p.S57-S57

2013

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073_16776-B2 Unexpectedly High Incidence of T309I Mutation in KCNQ1 Gene Among Czech Families With Long QT Syndrome

JACC. Clinical electrophysiology, 2017-10, Vol.3 (10), p.S11-S12

2017

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7 Genetic prevention of cystic fibrosis as a part of the national strategy for rare diseases in University Hospital Brno, Czech Republic (genetic counselling – DNA analysis – newborn screening – education)

Journal of cystic fibrosis, 2014-06, Vol.13, p.S46-S46

2014

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25 Cystic fibrosis (CF) prevalence derived from CF newborn screening (CFNBS) in the Czech Republic: comparison of previous epidemiological and current CFNBS-based disease prevalence data

Journal of cystic fibrosis, 2014-06, Vol.13, p.S51-S51

2014

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Determination of terbinafine in pharmaceuticals and dialyzates by capillary electrophoresis

Talanta (Oxford), 2005-02, Vol.65 (4), p.1031-1037

2005

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Cystic fibrosis – Pregnancy after IVF, CFTR Genotype: p.[F508del]+[Q685PfsX4]

Journal of cystic fibrosis, 2010, Vol.9, p.S120-S120

2010

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P015 CFTR RealTime Panel using pre-plated LightSNiP assays is a good strategy for CFTR genotyping

Journal of cystic fibrosis, 2019-06, Vol.18, p.S61-S61

2019

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Patients homozygous for F508del are not different at the beginning

Journal of cystic fibrosis, 2009, Vol.8, p.S14-S14

2009

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Identification of a novel frameshift mutation in CFTR gene: description, and clinical data

Journal of cystic fibrosis, 2009, Vol.8, p.S6-S6

2009

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Expanding application of next generation sequencing in clinical laboratory

Clinica chimica acta, 2022-05, Vol.530, p.S461-S462

2022

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23 IFRD1 polymorphisms as modifiers of severity of cystic fibrosis

1 Implementing prenatal diagnosis of cystic fibrosis based on cell-free fetal DNA

20 years of malignant hyperthermia in Czechia and Slovakia

5 Newborn screening of cystic fibrosis at University Hospital Brno, Czech Republic 2010–2016

18 Two years experience with CF newborn screening in University Hospital Brno

WS09.4 Next generation sequencing in newborn screening for cystic fibrosis

Determination of amlodipine enantiomers in pharmaceuticals using capillary electrophoresis separation and diode array detection

Newborn screening for cystic fibrosis (NBSCF) in region Moravia, Czech Republic

Enantiomeric purity control of levocetirizine in pharmaceuticals using anionic cyclodextrin mediated capillary electrophoresis separation and fiber-based diode array detection

G.P.14.07 RNA fluorescence in situ hybridization analysis of fetal tissues from a family affected by myotonic dystrophy

575T309I-Kv7.1 mutation as a feasible founder LQT1 mutation: clinical, genetic and biophysical analysis

Comparison of capillary zone electrophoresis and isotachophoresis determination of dimethindene enantiomers in pharmaceuticals using charged carboxyethyl -β -cyclodextrin as a chiral selector

Direct quantitative determination of amlodipine enantiomers in urine samples for pharmacokinetic study using on-line coupled isotachophoresis-capillary zone electrophoresis separation method with diode array detection

Clay Minerals in Nature: Their Characterization, Modification and Application

4 Multiplex amplification of specific targets for resequencing using next generation sequencing technology, applied in molecular diagnostics of cystic fibrosis

35 Neonatal screening for cystic fibrosis – A new experience for genetic counseling

073_16776-B2 Unexpectedly High Incidence of T309I Mutation in KCNQ1 Gene Among Czech Families With Long QT Syndrome

7 Genetic prevention of cystic fibrosis as a part of the national strategy for rare diseases in University Hospital Brno, Czech Republic (genetic counselling – DNA analysis – newborn screening – education)

25 Cystic fibrosis (CF) prevalence derived from CF newborn screening (CFNBS) in the Czech Republic: comparison of previous epidemiological and current CFNBS-based disease prevalence data

Determination of terbinafine in pharmaceuticals and dialyzates by capillary electrophoresis

Cystic fibrosis – Pregnancy after IVF, CFTR Genotype: p.[F508del]+[Q685PfsX4]

P015 CFTR RealTime Panel using pre-plated LightSNiP assays is a good strategy for CFTR genotyping

Patients homozygous for F508del are not different at the beginning

Identification of a novel frameshift mutation in CFTR gene: description, and clinical data

Expanding application of next generation sequencing in clinical laboratory

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