Search Results - M. Macek

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  1. 1
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    Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants by M. Batkova, M. Havlovicova, A. Nocar, L. Dudakova, M. Macek, Petra Liskova, Tatjana Dostalova

    Published 2024
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  2. 2
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    Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasu... by N. V. Petrova, N. Y. Kashirskaya, D. K. Saydaeva, A. V. Polyakov, T.A. Adyan, O. I. Simonova, Y. V. Gorinova, E. I. Kondratyeva, V. D. Sherman, O. G. Novoselova, T. A. Vasilyeva, A. V. Marakhonov, M. Macek, E. K. Ginter, R. A. Zinchenko

    Published 2019
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