Atypical phenotype of DMD carrier von Haberlova, J, Fajkusová, L, Zámečník, J, Hedvičáková, P, Dvořáková, L

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9 Milder pancreatic and pulmonary phenotype associated with nonsense mutations located within the legacy exon 24 of the CFTR gene von Holubová, A, Libile, M, Dvořáková, L, Skalická, V, Bartošová, J, Holčíková, A, Vávrová, V, Němečková, J, Peldová, P, Ptáková, N, Macek, M

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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... von 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

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P024 Compound heterozygotes bearing the CFTRdup22 in trans with another cystic fibrosis-causing variant have a generally milder course of cystic fibrosis: analysis of 6 Czech cysti... von Holubová, A., Libik, M., Dvořáková, L., Peldová, P., Skalická, V., Bartošová, J., Doušová, T., Grandcourtová, A., Fila, L., Holčíková, A., Macek, M.

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P.123 - Atypical phenotype of DMD carrier von Haberlova, J., Fajkusová, L., Zámečník, J., Hedvičáková, P., Dvořáková, L.

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Small and Medium-Sized Enterprises in the Service Sector in the Conditions of Industry 4.0 and Society 4.0: Evidence from the South-West Region of the Czech Republic von Vacek, Jiří, Dvořáková, Lilia, Skřivan, Lukáš

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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 von Lukšan, O, Dvořáková, L, Jirsa, M

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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 von Majer, F., Vlaskova, H., Krol, L., Kalina, T., Kubanek, M., Stolnaya, L., Dvorakova, L., Elleder, M., Sikora, J.

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

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Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families von Storkanova, G, Vlaskova, H, Chuzhanova, N, Zeman, J, Stranecky, V, Majer, F, Peskova, K, Luksan, O, Jirsa, M, Hrebicek, M, Dvorakova, L

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Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder? von Dvorakova, L., Sikora, J., Hrebicek, M., Hulkova, H., Bouckova, M., Stolnaja, L., Elleder, M.

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CONFIDENCE REGION DETERMINATION AND BIOPHYSICAL INTERPRETATION OF WATER-MOLECULE DIFFUSION PARAMETERS DETERMINED BY MAGNETIC RESONANCE DIFFUSION TENSOR AND DIFFUSION KURTOSIS IMAGI... von Starcuk, Z, Drazanova, E, Dvorakova, L

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24 Multicenter validation study of a novel StripAssay for cystic fibrosis von Puehringer, H, Macek, M, Stambergova, A, Dvorakova, L, Dunø, M, Tuemmler, B, Hedtfeld, S, Tzetis, M, Poulou, M, Oberkanins, C

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Molecular Characterization of Carbapenemase-Producing Pseudomonas aeruginosa of Czech Origin and Evidence for Clonal Spread of Extensively Resistant Sequence Type 357 Expressing IM... von Papagiannitsis, Costas C, Medvecky, Matej, Chudejova, Katerina, Skalova, Anna, Rotova, Veronika, Spanelova, Petra, Jakubu, Vladislav, Zemlickova, Helena, Hrabak, Jaroslav

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

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CFTR gene analysis in the Western-Ukrainian population: an unusually high frequency of the 2184insA mutation von Krenkova, P, Makukh, H, Hancarova, M, Dvorakova, L, Stambergova, A, Macek, M

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Spectrum of CFTR mutations in the Czech Republic von Krenkova, P, Piskackova, T, Balascakova, M, Holubova, A, Camajova, J, Hancarova, M, Dvorakova, L, Skalicka, V, Vavrova, V, Stambergova, A, Macek, M

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Eight novel ABCD1 gene mutations and three polymorphisms in patients with X‐linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange von Dvoráková, L., Štorkánová, G., Unterrainer, G., Hujová, J., Kmoch, S., Zeman, J., Hrebícek, M., Berger, J.

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OP 25.02: Heat shock protein gene expression: placental and maternal stress response to gestational hypertension, pre‐eclampsia and fetal growth restriction von Hromadnikova, I., Dvorakova, L., Kotlabova, K., Kestlerova, A., Hympanova, L., Novotna, V., Doucha, J., Krofta, L.

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OP25.02: Heat shock protein gene expression: placental and maternal stress response to gestational hypertension, pre‐eclampsia and fetal growth restriction von Hromadnikova, I., Dvorakova, L., Kotlabova, K., Kestlerova, A., Hympanova, L., Novotna, V., Doucha, J., Krofta, L.

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