From clinical to molecular diagnosis: relevance of the MLPA in one case of recessive myotonia congenita – case report
Preprint in Research Square (November 2022)
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Whole exome sequencing of FFPE samples—expanding the horizon of forensic molecular autopsies
Article in International Journal of Legal Medicine (November 2022)
Technical in-depth comparison of two massive parallel DNA-sequencing methods for formalin-fixed paraffin-embedded tissue from victims of sudden cardiac death
Article in Forensic Science International Genetics (April 2021)