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List of works by Magdalena Mroczek

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.

scientific article

Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

scientific article published on 17 June 2020

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

scientific article published on 14 February 2020

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

scientific article published on 27 June 2020

Genetic modifiers and phenotypic variability in neuromuscular disorders

scientific article published on 11 September 2020

Imaging Transcriptomics in Neurodegenerative Diseases

scientific article published on 26 December 2020

Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies.

scientific article published on January 2015

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

scientific article published on 11 June 2020

The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies

scientific article published in 2022

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