SCUVERA, GIULIETTA
SCUVERA, GIULIETTA
Universita' degli Studi di MILANO
16p13 microduplication without CREBBP involvement : moving toward a phenotype delineation
2017 C. Ciaccio, A. Tucci, G. Scuvera, M. Estienne, S. Esposito, D. Milani
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
2018 L. Paganini, C. Pesenti, D. Milani, L. Fontana, S. Motta, S.M. Sirchia, G. Scuvera, P. Marchisio, S. Esposito, C.M. Cinnante, S.M. Tabano, M.R. Miozzo
Autoimmunity and cytokine imbalance in inherited epidermolysis bullosa
2016 S. Esposito, S. Guez, A. Orenti, G. Tadini, G. Scuvera, L. Corti, A. Scala, E. Biganzoli, E. Berti, N. Principi
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth
2017 L. Ferrari, G. Scuvera, A. Tucci, D. Bianchessi, F. Rusconi, F. Menni, E. Battaglioli, D. Milani, P. Riva
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? : A case report and review of 62 cases
2017 A. Tucci, L. Pezzani, G. Scuvera, L. Ronzoni, E. Scola, S. Esposito, D. Milani
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
2016 A. Tucci, C. Ciaccio, G. Scuvera, S. Esposito, D. Milani
New Insights into Kleefstra Syndrome : Report of Two Novel Cases with Previously Unreported Features and Literature Review
2018 C. Ciaccio, G. Scuvera, A. Tucci, B. Gentilin, M. Baccarin, P. Marchisio, S. Avignone, D. Milani
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery
2020 S. Aleo, C. Cinnante, S. Avignone, E. Prada, G. Scuvera, P.F. Ajmone, A. Selicorni, M.A. Costantino, F. Triulzi, P. Marchisio, C. Gervasini, D. Milani
Perthes disease : A new finding in Floating-Harbor syndrome
2018 D. Milani, G. Scuvera, M. Gatti, G. Tolva, F. Bonarrigo, S. Esposito, C. Gervasini
Progressive bone impairment with age and pubertal development in neurofibromatosis type I
2018 G. Rodari, G. Scuvera, F.M. Ulivieri, E. Profka, F. Menni, V. Saletti, S. Esposito, S. Bergamaschi, E. Ferrante, C. Eller-Vainicher, S. Esposito, M. Arosio, C. Giavoli
Response to "Characteristics of 2p15-p16.1 microdeletion syndrome : review and description of two additional patients"
2015 L. Ronzoni, V. Saletti, G. Scuvera, S. Esposito, D. Milani
The absence that makes the difference: choroidal abnormalities in Legius syndrome
2017 A. Tucci, V. Saletti, F. Menni, C. Cesaretti, G. Scuvera, S. Esposito, G. Melloni, S. Esposito, D. Milani, C. Cereda, M. Cigada, L. Tresoldi, F. Viola, F. Natacci