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Global DNA methylation in rats´ liver is not affected by hypercholesterolemic diet

Physiological research, 2020-04, Vol.69 (2), p.347-352

2020

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Triple trouble – DMD, autism, epilepsy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S243-S243

2015

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G.P.250

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.892-892

2014

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Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

Clinical genetics, 2017-03, Vol.91 (3), p.463-469

2017

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G.P.44 Spectrum of mutations identified in the cohort of Czech LGMD patients

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.832-832

2012

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G.P.24 Congenital muscular dystrophy with epidermolysis bullosa: A case report

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.829-830

2012

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S.P.47 CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.897-897

2012

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P603Quantitative assessment of left ventricular function and deformation in Duchenne and Becker muscular dystrophy patients

European heart journal cardiovascular imaging, 2019-06, Vol.20 (Supplement_2)

2019

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P3330Cardiac magnetic resonance including T1 mapping in patients with Duchenne and Becker muscular dystrophy

European heart journal, 2017-08, Vol.38 (suppl_1)

2017

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Two novel mutations in mitochondrial acetoacetyl‐CoA thiolase deficiency

Journal of inherited metabolic disease, 2005-01, Vol.28 (2), p.235-236

2005

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Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes

Clinical neuropathology, 2008-03, Vol.27 (2), p.64

2008

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G.P.197 - Triple trouble – DMD, autism, epilepsy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S243-S243

2015

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G.P.250: Czech national registries of hereditary neuromuscular disorders

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.892-892

2014

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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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DATABASES, REGISTRIES AND BIOMARKERS - POSTER PRESENTATIONS S.P.30 CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.880-880

2012

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S.P.59 Current care practice in Duchenne Muscular Dystrophy in Europe – results of the CARE-NMD cross-sectional survey

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.886-887

2012

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Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles

Blood cells, molecules, & diseases, 1999-10, Vol.25 (5), p.287-298

1999

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Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes

Journal of clinical immunology, 2007-11, Vol.27 (6), p.640-646

2007

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Biochemical and molecular analyses in three patients with 3‐hydroxy‐3‐methylglutaric aciduria

Journal of inherited metabolic disease, 2003-01, Vol.26 (5), p.433-441

2003

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Evaluation of the work quality of the sugar beet planter in relation to the sugar beet seed parameters

Research in Agricultural Engineering (Praha), 2008, Vol.54 (3), p.148-154

2008

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Nutrigenomics analyze of expression of extracellular leptin receptor by the following essential oil monitoring at the avian models

Potravinarstvo, 2011-04, Vol.5 (2), p.55-58

2011

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Methods for fish species identification in food products

Potravinarstvo, 2010-07, Vol.4 (3), p.1-5

2010

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Influence of fentanyl, ketamine or lidocaine infusion on the intraocular pressure and pupil size in conscious dogs

Veterinární medicína, 2022-05, Vol.67 (5), p.240-244

2022

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The influence of fentanyl injection followed by infusion on the intraocular pressure, pupil size and aqueous tear production in healthy non-painful dogs

Veterinární medicína, 2019-01, Vol.64 (10), p.448-455

2019

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Renal Transplantation in a Unique Porcine Model: Step-by-Step

International journal of organ transplantation medicine, 2022-01, Vol.13 (4), p.30-40

2022

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Global DNA methylation in rats´ liver is not affected by hypercholesterolemic diet

Triple trouble – DMD, autism, epilepsy

G.P.250

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic

G.P.44 Spectrum of mutations identified in the cohort of Czech LGMD patients

G.P.24 Congenital muscular dystrophy with epidermolysis bullosa: A case report

S.P.47 CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy

P603Quantitative assessment of left ventricular function and deformation in Duchenne and Becker muscular dystrophy patients

P3330Cardiac magnetic resonance including T1 mapping in patients with Duchenne and Becker muscular dystrophy

Two novel mutations in mitochondrial acetoacetyl‐CoA thiolase deficiency

Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes

G.P.197 - Triple trouble – DMD, autism, epilepsy

G.P.250: Czech national registries of hereditary neuromuscular disorders

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

DATABASES, REGISTRIES AND BIOMARKERS - POSTER PRESENTATIONS S.P.30 CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy

S.P.59 Current care practice in Duchenne Muscular Dystrophy in Europe – results of the CARE-NMD cross-sectional survey

Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles

Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes

Biochemical and molecular analyses in three patients with 3‐hydroxy‐3‐methylglutaric aciduria

Evaluation of the work quality of the sugar beet planter in relation to the sugar beet seed parameters

Nutrigenomics analyze of expression of extracellular leptin receptor by the following essential oil monitoring at the avian models

Methods for fish species identification in food products

Influence of fentanyl, ketamine or lidocaine infusion on the intraocular pressure and pupil size in conscious dogs

The influence of fentanyl injection followed by infusion on the intraocular pressure, pupil size and aqueous tear production in healthy non-painful dogs

Renal Transplantation in a Unique Porcine Model: Step-by-Step

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