FABRETTO, ANTONELLA

FABRETTO, ANTONELLA  

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Titolo Data di pubblicazione Autori File
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference 1-gen-2018 Fabretto, AntonellaPecile, VannaGasparini, PaoloCarrozzi, Marco +
Alagille syndrome: A new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA 1-gen-2013 Vozzi, D.Licastro, D.Athanasakis, E.Gasparini, P.Fabretto, A. +
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 1-gen-2019 Skabar, AldoFabretto, AntonellaDe Zorzi, RitaFortuna, Sara +
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation 1-gen-2010 Fabretto, AntonellaSHARDLOW, ALISONFaletra, FlavioGasparini, Paolo +
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12 1-gen-2012 Fabretto, AntonellaFaletra, FlavioSkabar, AldoGasparini, PaoloPecile, Vanna +
Genetics of hearing loss (from congenital forms to presbycusis) 1-gen-2011 DIPRESA, SAVINAFABRETTO, ANTONELLAGIROTTO, GIORGIAGASPARINI, PAOLO +
Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures 1-gen-2012 Licastro, DaniloVozzi, DiegoAthanasakis, EmmanouilFabretto, AntonellaGasparini, Paolo +
Molecular epidemiology of Usher syndrome in Italy 1-gen-2011 VOZZI, DIEGOATHANASAKIS, EMMANOUILFABRETTO, ANTONELLALICASTRO, DANILOTESTA, FRANCESCOMARTINI, ALESSANDROGASPARINI, PAOLO +
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature 1-gen-2011 Faletra, FlavioDevescovi, RaffaellaPecile, VannaFabretto, AntonellaCarrozzi, MarcoGasparini, Paolo
A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome 1-gen-2018 Mazzon G.Menichelli A.Fabretto A.Cattaruzza T.Manganotti P.
De novo 6.9Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features 1-gen-2012 Fabretto, AntonellaPerrone, Maria DoloresSkabar, AldoPecile, VannaGasparini, Paolo +
Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling. 1-gen-2014 NAVIGLIO, SAMUELEMARTELOSSI, STEFANOTOMMASINI, ALBERTOLOGANES, CLAUDIAFABRETTO, ANTONELLAVENTURA, ALESSANDRO +
Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I 1-gen-2010 Fabretto, AntonellaDemarini, SergioGasparini, Paolo +
Type 3 Congenital Multiple Pituitary Hormone Deficiency 1-gen-2014 Radillo LFabretto ADemarini STornese GPellegrin MC. +