Sfoglia per Autore
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
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome
2016 A. Tucci, L. Ronzoni, C. Arduino, P. Salmin, S. Esposito, D. Milani
7p22.1 microduplication syndrome : refinement of the critical region
2017 L. Ronzoni, F.S. Grassi, L. Pezzani, A. Tucci, M. Baccarin, S. Esposito, D. Milani
16p13 microduplication without CREBBP involvement : moving toward a phenotype delineation
2017 C. Ciaccio, A. Tucci, G. Scuvera, M. Estienne, S. Esposito, D. Milani
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
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
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
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
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