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The spectrum of mutations in the PAH gene in patients with hyperphenylalaninemia from the Karachay-Cherkess Republic
Gundorova P., Zinchenko R.A., Makaov A.K., Polyakov A.V.
Genotyping of patients with phenylketonuria from different regions of Russia for determining BH4 responsiveness
Gundorova P., Stepanova A.A., Bushueva T.V., Belyashova E.Y., Zinchenko R.A., Amelina S.S., Kutsev S.I., Polyakov A.V.
Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia)
Gundorova P., Stepanova A.A., Makaov A.K., Zinchenko R.A., Abaykhanova Z.M., Polyakov A.V.
Clinical Utility of MLPA and QF-PCR Techniques in the Genetic Testing of Miscarriages
Bernatowicz K., Zimowski J., Łaczmańska I., Piotrowski K., Kashyap A., Bednarska-Makaruk M., Sąsiadek M., Gronwald J.
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