PRADA, ELISABETTA

PRADA, ELISABETTA  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability : a case report 2021 Moresco G.Rondinone O.Grilli F.Prada E.Marchisio P.Miozzo M.Fontana L.Milani D. + Article (author) -
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery 2020 Cinnante, ClaudiaPrada, ElisabettaScuvera, GiuliettaTriulzi, FabioMarchisio, PaolaGervasini, CristinaMilani, Donatella + Article (author) -
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology 2022 Moresco, GiadaRondinone, OrnellaMauri, AlessiaColapietro, PatriziaMarfia, GiovanniGrilli, FedericoRinaldi, BerardoPrada, ElisabettaMiozzo, Monica RosaMilani, DonatellaFontana, Laura + Article (author) -
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients 2020 Prada E.Ricci S.Milani D.Gervasini C. + Article (author) -
Unexpected phenotype in a frameshift mutation of PTCH1 2020 BELTRAMI, BENEDETTAPrada E.Tolva G.Silipigni R.Bulfamante G.Gervasini C.Marchisio P.Milani D. + Article (author) -