Publications

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Filters: First Letter Of Last Name is M and Author is Mroczek, Magdalena  [Clear All Filters]
2020
Mroczek, M. et al. Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients. Neuromuscul Disord 30, 310-314 (2020).
Mroczek, M., Durmus, H., Topf, A., Parman, Y. & Straub, V. Four Individuals with a Homozygous Mutation in Exon 1f of the Gene and Associated Myasthenic Features. Genes (Basel) 11, (2020).
Topf, A. et al. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet Med 22, 1478-1488 (2020).