TUCCI, ARIANNA

TUCCI, ARIANNA  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
New Insights into Kleefstra Syndrome : Report of Two Novel Cases with Previously Unreported Features and Literature Review 2018 Ciaccio, ClaudiaScuvera, GiuliettaTucci, AriannaGentilin, BarbaraBaccarin, MarcoMarchisio, PaolaMilani, Donatella + Article (author) -
16p13 microduplication without CREBBP involvement : moving toward a phenotype delineation 2017 C. CiaccioA. TucciG. ScuveraS. EspositoD. Milani + Article (author) -
The absence that makes the difference: choroidal abnormalities in Legius syndrome 2017 Tucci, AriannaScuvera, GiuliettaMelloni, GiuliaMilani, DonatellaViola, Francesco + Article (author) -
7p22.1 microduplication syndrome : refinement of the critical region 2017 L. RonzoniL. PezzaniA. TucciM. BaccarinS. EspositoD. Milani + Article (author) -
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? : A case report and review of 62 cases 2017 A. TucciL. PezzaniG. ScuveraL. RonzoniS. EspositoD. Milani + Article (author) -
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth 2017 L. FerrariG. ScuveraA. TucciF. RusconiE. BattaglioliD. MilaniP. Riva + Article (author) -
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions 2016 A. TucciC. CiaccioG. ScuveraS. EspositoD. Milani Article (author) -
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome 2016 A. TucciL. RonzoniS. EspositoD. Milani + Article (author) -