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Miriam Skirkova
Miriam Skirkova
Genetics
Biology
Age of onset
Atrophy
Mitochondrial depletion
2
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1
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0
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Answer to Finsterer about “Multisystem presentation of a homozygous POLG2 variant”
2020
European Journal of Medical Genetics
Petra Dosekova
Andrzej Dubiel
Anna Karlowicz
Szymon Zietkiewicz
Małgorzata Rydzanicz
Viera Habalová
Victor Murcia Pienkowski
Miriam Skirkova
Vladimir Han
Alexandra Mosejova
Zuzana Gdovinova
Magdalena Kaliszewska
Katarzyna Tońska
Michal R. Szymanski
Matej Skorvanek
Rafał Płoski
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Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion
2019
European Journal of Medical Genetics
Petra Dosekova
Andrzej Dubiel
Anna Karlowicz
Szymon Zietkiewicz
Małgorzata Rydzanicz
Viera Habalová
Victor Murcia Pienkowski
Miriam Skirkova
Vladimir Han
Alexandra Mosejova
Zuzana Gdovinova
Magdalena Kaliszewska
Katarzyna Tońska
Michal R. Szymanski
Matej Skorvanek
Rafał Płoski
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