Research output per year
Research output per year
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Dive into the research topics where Raffaella Mazzotti is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
- 2 Article
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ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study
Filosto, M., Aureli, M., Castellotti, B., Rinaldi, F., Schiumarini, D., Valsecchi, M., Lualdi, S., Mazzotti, R., Pensato, V., Rota, S., Gellera, C., Filocamo, M. & Padovani, A., Mar 30 2016, (Accepted/In press) In: European Journal of Human Genetics.Research output: Contribution to journal › Article › peer-review
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MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease
Amico, G., Grossi, S. M., Vijzelaar, R., Lanza, F., Mazzotti, R., Corsolini, F., Ketema, M. & Filocamo, M., Dec 1 2016, In: Molecular Genetics and Metabolism. 119, 4, p. 329-337 9 p.Research output: Contribution to journal › Article › peer-review