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Browsing by Author Mencarelli, M.A.

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Full TextIssue DateTitleAuthor(s)
200914q12 Microdeletion syndrome and congenital variant of Rett syndrome.Mencarelli, M.A.; Kleefstra, T.; Katzaki, E., et al
2011Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disabilityMencarelli, M.A.; Tassini, M.; Pollazzon, M., et al
2010Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.Volpi, L.; Roversi, G.; Colombo, E.A., et al
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