Publications by authors named "Agnes Miko"

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The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere

Hum Mutat· December 2022

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[Arthrogryposis–renal dysfunction–cholestasis syndrome].
Ágnes Mikó, Szendile Lóth, Judit Müller, Bence Lotz, Patrizio Rossitto

Orv Hetil· January 2022

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Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Ágnes Mikó, Ambrus Kaposi, Karolina Schnabel, Dániel Seidl, Kálmán Tory

Hum Mutat· November 2021

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The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.
Ágnes Mikó, Dóra K Menyhárd, Ambrus Kaposi, Corinne Antignac, Kálmán Tory

Hum Mutat· December 2018

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C-terminal oligomerization of podocin mediates interallelic interactions.
Pál Stráner, Eszter Balogh, Gusztáv Schay, Christelle Arrondel, Ágnes Mikó

Biochim Biophys Acta Mol Basis Dis· July 2018

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