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Lista de obras de Magdalena Kaliszewska

Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant"

scientific article published on 09 March 2020

Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

artículo científico publicado en 2017

Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts

artículo científico publicado en 2017

Mitochondrial cytopathies: clinical, morphological and genetic characteristics.

artículo científico publicado en 2009

Mitochondrial encephalomyopathy: towards diagnosis. A case report

artículo científico publicado en 2014

Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests

artículo científico publicado en 2012

Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.

artículo científico publicado en 2018

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation

artículo científico publicado en 2020

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

scientific article published on 10 November 2018

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

scientific article published on 26 November 2019

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

artículo científico publicado en 2015

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