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Loading of cell cultures with cholesterol‐dextran particles as a new functional test for Niemann–Pick type C disease

Journal of inherited metabolic disease, 2022-05, Vol.45 (3), p.584-592

2022

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Are worksheets death? Words in museum education

Studia universitatis hereditati, 2018-12, Vol.6 (2), p.47-62

Mrázová, Lenka

2018

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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Kidney international, 2022-02, Vol.101 (2), p.349-359

2022

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Serum Bilirubin in the Czech Population　― Relationship to the Risk of Myocardial Infarction in Males

Circulation Journal, 2020/09/25, Vol.84(10), pp.1779-1785

2020

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CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel

PloS one, 2013-12, Vol.8 (12), p.e82549-e82549

2013

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Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.10-10, Article 10

2019

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MEZIOBOROVÁ TERÉNNÍ VÝUKA V RÁMCI LETNÍ ŠKOLY GEOCAMP

Biologie. Chemie. Zeměpis, 2024-01, Vol.32 (3), p.2-16

2024

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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

PloS one, 2023-07, Vol.18 (7), p.e0288907-e0288907

2023

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Remarks on the role of Z. Z. Stránský in conceptual development of the curriculum of Brno museology

Museologica Brunensia, 2016 (2), p.65-73

Mrázová, Lenka

2016

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Sodium-glucose cotransporter 2 inhibitors induce anti-inflammatory and anti-ferroptotic shift in epicardial adipose tissue of subjects with severe heart failure

Cardiovascular diabetology, 2024-06, Vol.23 (1), p.1-17, Article 223

2024

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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Molecular genetics and metabolism, 2017-07, Vol.121 (3), p.206-215

2017

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Rare variants in known and novel candidate genes predisposing to statin-associated myopathy

Pharmacogenomics, 2016-08, Vol.17 (13), p.1405-1414

2016

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Open round table of museology: international live discussion of students and experts on museology

Museologica Brunensia, 2017 (1), p.55-61

2017

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HGSNAT has a TATA-less promoter with multiple starts of transcription

Gene, 2016-10, Vol.592 (1), p.36-42

2016

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Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

BMC neurology, 2014-08, Vol.14 (1), p.154-154, Article 154

2014

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Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene

Human mutation, 2009-06, Vol.30 (6), p.918-925

2009

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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

American journal of human genetics, 2006-11, Vol.79 (5), p.807-819

2006

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Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes

Blood cells, molecules, & diseases, 2011-03, Vol.46 (3), p.239-245

2011

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Suprascapular neuropathy in a child

Neurologie pro praxi, 2016-02, Vol.17 (1), p.56-58

2016

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Malignant catatonia due to anti-NMDA-receptor encephalitis in a 15-year-old girl: case report and summary of current knowledge

Neuropsychiatry, 2016, Vol.6 (4)

2016

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Muzejní profese a veřejnost 2: Reflexe edukačního fenoménu v současné muzejní praxi

2018

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Mutations in TMEM76 Cause Mucopolysaceharidosis IIIC (Sanfilippo C Syndrome)

American journal of human genetics, 2006-11, Vol.79 (5), p.807

2006

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Serum Bilirubin in the Czech Population　― Relationship to the Risk of Myocardial Infarction in Males

Circulation Journal, 2020/08/26, pp.CJ-20-0192

2020

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Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report

Journal of dermatological case reports, 2016-11, Vol.10 (3), p.39-48

2016

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Loading of cell cultures with cholesterol‐dextran particles as a new functional test for Niemann–Pick type C disease

Are worksheets death? Words in museum education

A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Serum Bilirubin in the Czech Population　― Relationship to the Risk of Myocardial Infarction in Males

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel

Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping

MEZIOBOROVÁ TERÉNNÍ VÝUKA V RÁMCI LETNÍ ŠKOLY GEOCAMP

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

Remarks on the role of Z. Z. Stránský in conceptual development of the curriculum of Brno museology

Sodium-glucose cotransporter 2 inhibitors induce anti-inflammatory and anti-ferroptotic shift in epicardial adipose tissue of subjects with severe heart failure

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy

Open round table of museology: international live discussion of students and experts on museology

HGSNAT has a TATA-less promoter with multiple starts of transcription

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes

Suprascapular neuropathy in a child

Malignant catatonia due to anti-NMDA-receptor encephalitis in a 15-year-old girl: case report and summary of current knowledge

Muzejní profese a veřejnost 2: Reflexe edukačního fenoménu v současné muzejní praxi

Muzejní profese a veřejnost 2: Reflexe edukačního fenoménu v současné muzejní praxi

Mutations in TMEM76 Cause Mucopolysaceharidosis IIIC (Sanfilippo C Syndrome)

Serum Bilirubin in the Czech Population　― Relationship to the Risk of Myocardial Infarction in Males

Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report

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