Publications by authors named "Emil Polak"

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Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles.
Jan Radvanszky, Michaela Hyblova, Eva Radvanska, Peter Spalek, Alica Valachova, Emil Polak

J Clin Med· August 2021

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The Genetic Landscape and Epidemiology of Phenylketonuria.
Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K Burton, Emil Polak

Am J Hum Genet· August 2020

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Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.
Martina Pecimonova, Emil Polak, Frantisek Csicsay, Kamila Reblova, Maja Stojiljkovic

Gen Physiol Biophys· October 2017

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The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents.
Emil Polák, Eva Vitáriušová, Peter Celec, Zuzana Pribilincová, Ľudmila Košťálová

J Pediatr Endocrinol Metab· January 2016

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Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.
Emil Polak, Andrej Ficek, Jan Radvanszky, Andrea Soltysova, Otto Urge

Gene· September 2013

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Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus.
Jan Radvanszky, Milan Surovy, Emil Polak, Ludevit Kadasi

Neuromuscul Disord· July 2013

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