SCUVERA, GIULIETTA

SCUVERA, GIULIETTA  

Universita' degli Studi di MILANO  

Risultati 1 - 12 di 12 (tempo di esecuzione: 0.006 secondi).
Titolo Data di pubblicazione Autore(i) Tipo File Abstract
16p13 microduplication without CREBBP involvement : moving toward a phenotype delineation 1-mar-2017 C. CiaccioA. TucciG. ScuveraS. EspositoD. Milani + Article (author) -
The absence that makes the difference: choroidal abnormalities in Legius syndrome 1-nov-2017 Tucci, AriannaScuvera, GiuliettaMelloni, GiuliaMilani, DonatellaViola, Francesco + Article (author) -
Autoimmunity and cytokine imbalance in inherited epidermolysis bullosa 24-set-2016 S. EspositoA. OrentiG. ScuveraE. BiganzoliE. BertiN. Principi + Article (author) -
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth 1-ott-2017 L. FerrariG. ScuveraA. TucciF. RusconiE. BattaglioliD. MilaniP. Riva + Article (author) -
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? : A case report and review of 62 cases 1-mar-2017 A. TucciL. PezzaniG. ScuveraL. RonzoniS. EspositoD. Milani + Article (author) -
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions 1-gen-2016 A. TucciC. CiaccioG. ScuveraS. EspositoD. Milani Article (author) -
New Insights into Kleefstra Syndrome : Report of Two Novel Cases with Previously Unreported Features and Literature Review 17-nov-2018 Ciaccio, ClaudiaScuvera, GiuliettaTucci, AriannaGentilin, BarbaraBaccarin, MarcoMarchisio, PaolaMilani, Donatella + Article (author) -
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome 1-giu-2018 Paganini, LedaPesenti, ChiaraMilani, DonatellaFontana, LauraMotta, SilviaSirchia, Silvia MariaScuvera, GiuliettaMarchisio, PaolaCinnante, Claudia MariaTabano, Silvia MariaMiozzo, Monica Rosa + Article (author) -
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery 1-ago-2020 Cinnante, ClaudiaPrada, ElisabettaScuvera, GiuliettaTriulzi, FabioMarchisio, PaolaGervasini, CristinaMilani, Donatella + Article (author) -
Perthes disease : A new finding in Floating-Harbor syndrome 1-mar-2018 D. MilaniG. ScuveraGATTI, MARTATOLVA, GIANLUCAF. BonarrigoS. EspositoC. Gervasini Article (author) -
Progressive bone impairment with age and pubertal development in neurofibromatosis type I 27-ago-2018 Rodari, GiuliaScuvera, G.Profka, E.Esposito, S.Ferrante, E.Eller-Vainicher, C.Esposito, S.Arosio, M.Giavoli, C. + Article (author) -
Response to "Characteristics of 2p15-p16.1 microdeletion syndrome : review and description of two additional patients" 1-nov-2015 L. RonzoniG. ScuveraS. EspositoD. Milani + Article (author) -