Search Results - "Dvorakova, L." :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

by Dvorakova, L., Vlaskova, H., Sarajlija, A., Ramadza, D. P., Poupetova, H., Hruba, E., Hlavata, A., Bzduch, V., Peskova, K., Storkanova, G., Kecman, B., Djordjevic, M., Baric, I., Fumic, K., Barisic, I., Reboun, M., Kulhanek, J., Zeman, J., Magner, M.
Published in Clinical genetics (01.05.2017)

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Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

by Majer, F., Vlaskova, H., Krol, L., Kalina, T., Kubanek, M., Stolnaya, L., Dvorakova, L., Elleder, M., Sikora, J.
Published in Gene (01.05.2012)

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Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families

by Storkanova, G, Vlaskova, H, Chuzhanova, N, Zeman, J, Stranecky, V, Majer, F, Peskova, K, Luksan, O, Jirsa, M, Hrebicek, M, Dvorakova, L
Published in Clinical genetics (01.12.2013)

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HNF-4α regulates expression of human ornithin carbamoyltransferase through interaction with two positive cis-acting regulatory elements located in the proximal promoter

HNF-4α regulates expression of human ornithin carbamoyltransferase through interaction with two positive cis-acting regulatory elements located in the proximal promoter

by Lukšan, O, Dvořáková, L, Jirsa, M
Published in Folia biologica (2014)

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IMPLEMENTATION OF SUSTAINABILITY PRINCIPLES INTO SYSTEMS OF BUSINESS MANAGEMENT - LINKING SUSTAINABILITY TO BUSINESS STRATEGY

IMPLEMENTATION OF SUSTAINABILITY PRINCIPLES INTO SYSTEMS OF BUSINESS MANAGEMENT - LINKING SUSTAINABILITY TO BUSINESS STRATEGY

by Dvorakova, L, Vallisova, L
Published in Natsional'nyi Hirnychyi Universytet. Naukovyi Visnyk (2015)

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Prevalence study on carbapenemase-producing Escherichia coli and Klebsiella pneumoniae isolates in Czech hospitals--results from Czech Part of European Survey on Carbapenemase--Producing Enterobacteriaceae (EuSCAPE)

Prevalence study on carbapenemase-producing Escherichia coli and Klebsiella pneumoniae isolates in Czech hospitals--results from Czech Part of European Survey on Carbapenemase--Producing Enterobacteriaceae (EuSCAPE)

by Hrabák, J, Študentová, V, Jakubů, V, Adámková, V, Dvořáková, L, Balejova, M, Bergerová, T, Chmelařová, E, Ježek, P, Kabelíková, P, Kolář, M, Paterová, P, Tejkalová, R, Papagiannitsis, C, Žemličková, H
Published in Epidemiologie, mikrobiologie, imunologie (01.06.2015)

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Measles re-emerging in the Ústí Region

Measles re-emerging in the Ústí Region

by Trmal, J, Kupcová, J, Dvořáková, L, Vaculíková, D, Limberková, R, Šlajová, I, Pospíšilová, J
Published in Epidemiologie, mikrobiologie, imunologie (01.06.2014)

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Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder?

Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder?

by Dvorakova, L., Sikora, J., Hrebicek, M., Hulkova, H., Bouckova, M., Stolnaja, L., Elleder, M.
Published in Journal of inherited metabolic disease (01.08.2006)

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24 Multicenter validation study of a novel StripAssay for cystic fibrosis

24 Multicenter validation study of a novel StripAssay for cystic fibrosis

by Puehringer, H, Macek, M, Stambergova, A, Dvorakova, L, Dunø, M, Tuemmler, B, Hedtfeld, S, Tzetis, M, Poulou, M, Oberkanins, C
Published in Journal of cystic fibrosis (2011)

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19 Summary of the simultaneous IRT/PAP/ST+DNA and IRT/DNA/IRT newborn screening protocols in the Czech Republic

19 Summary of the simultaneous IRT/PAP/ST+DNA and IRT/DNA/IRT newborn screening protocols in the Czech Republic

by Krulisova, V, Balascakova, M, Skalicka, V, Piskackova, T, Holubova, A, Stambergova, A, Dvorakova, L, Krenkova, P, Zemkova, D, Kracmar, P, Vavrova, V, Macek, M, Votava, F
Published in Journal of cystic fibrosis (2011)

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CFTR gene analysis in the Western-Ukrainian population: an unusually high frequency of the 2184insA mutation

CFTR gene analysis in the Western-Ukrainian population: an unusually high frequency of the 2184insA mutation

by Krenkova, P, Makukh, H, Hancarova, M, Dvorakova, L, Stambergova, A, Macek, M
Published in Journal of cystic fibrosis (2009)

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Unusual Presentation of Kelley-Seegmiller Syndrome

Unusual Presentation of Kelley-Seegmiller Syndrome

by Sebesta, I., StibÅrková, B., Dvorakova, L., Hrebicek, M., Minks, J., Stolnaja, L., Vernerova, Z., Rychlik, I.
Published in Nucleosides, nucleotides & nucleic acids (01.06.2008)

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Spectrum of CFTR mutations in the Czech Republic

Spectrum of CFTR mutations in the Czech Republic

by Krenkova, P, Piskackova, T, Balascakova, M, Holubova, A, Camajova, J, Hancarova, M, Dvorakova, L, Skalicka, V, Vavrova, V, Stambergova, A, Macek, M
Published in Journal of cystic fibrosis (2010)

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Atypical phenotype of DMD carrier

Atypical phenotype of DMD carrier

by Haberlova, J, Fajkusová, L, Zámečník, J, Hedvičáková, P, Dvořáková, L
Published in Neuromuscular disorders : NMD (01.10.2016)

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Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene

Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene

by Valik, D, Sedova, Z, Starha, J, Zeman, J, Hruba, E, Dvorakova, L
Published in Acta Paediatrica (01.05.2004)

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X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female

X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female

by Řeboun, M, Rybová, J, Dobrovolný, R, Včelák, J, Veselková, T, Štorkánová, G, Mušálková, D, Hřebíček, M, Ledvinová, J, Magner, M, Zeman, J, Pešková, K, Dvořáková, L
Published in Folia biologica (01.01.2016)

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CONFIDENCE REGION DETERMINATION AND BIOPHYSICAL INTERPRETATION OF WATER-MOLECULE DIFFUSION PARAMETERS DETERMINED BY MAGNETIC RESONANCE DIFFUSION TENSOR AND DIFFUSION KURTOSIS IMAGING IN THE MOUSE BRAIN

CONFIDENCE REGION DETERMINATION AND BIOPHYSICAL INTERPRETATION OF WATER-MOLECULE DIFFUSION PARAMETERS DETERMINED BY MAGNETIC RESONANCE DIFFUSION TENSOR AND DIFFUSION KURTOSIS IMAGING IN THE MOUSE BRAIN

by Starcuk, Z, Drazanova, E, Dvorakova, L
Published in Physiological research (01.07.2016)

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Long-term prognosis of infants of diabetic mothers. Relationship between metabolic disorders in newborns and adult offspring

Long-term prognosis of infants of diabetic mothers. Relationship between metabolic disorders in newborns and adult offspring

by Pribylová, H, Dvoráková, L
Published in Acta diabetologica (01.03.1996)

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9 Milder pancreatic and pulmonary phenotype associated with nonsense mutations located within the legacy exon 24 of the CFTR gene

9 Milder pancreatic and pulmonary phenotype associated with nonsense mutations located within the legacy exon 24 of the CFTR gene

by Holubová, A, Libile, M, Dvořáková, L, Skalická, V, Bartošová, J, Holčíková, A, Vávrová, V, Němečková, J, Peldová, P, Ptáková, N, Macek, M
Published in Journal of cystic fibrosis (01.06.2016)

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Healthcare management of children with an acquired demyelinating syndrome in the Czech Republic

Healthcare management of children with an acquired demyelinating syndrome in the Czech Republic

by Toman, Tomáš, Svěráková, Anna, Kršek, Pavel, Libá, Zuzana
Published in Česká a Slovenská neurologie a neurochirurgie (30.06.2024)

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