PERON, ANGELA

PERON, ANGELA  

Dipartimento di Scienze della Salute  

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Risultati 1 - 20 di 61 (tempo di esecuzione: 0.007 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation 1-gen-2017 Ronzoni L.Peron A.Triulzi F.Leva E. + Article (author) -
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature 1-nov-2015 A. VignoliA. PeronM.P. RecalcatiI. CatusiL. Larizza + Article (author) -
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature 27-apr-2021 Maria Paola CaneviniAngela Peron + Article (author) -
Aortic dilation in Sotos syndrome : an underestimated feature? 1-lug-2020 Pezzani L.Peron A.Marchisio P. G.Colli A.Milani D. + Article (author) -
Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers 1-dic-2015 A. VignoliF. La BriolaA. PeronK. TurnerE. MagnaghiM.P. Canevini + Article (author) -
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 1-gen-2021 Angela Peron + Article (author) -
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World 1-gen-2021 Peron A. + Article (author) -
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 1-set-2019 Milani D.Peron A. + Article (author) -
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 20-apr-2021 Parodi, ChiaraDi Fede, ElisabettaPeron, AngelaViganò, IlariaGrazioli, PaoloCastiglioni, SilviaGervasini, CristinaVignoli, AglaiaMassa, Valentina + Article (author) -
Corrigendum to "Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet 2013, 161A: 2316-2320" 1-apr-2014 Peron A. + Article (author) -
Current concepts on epilepsy management in tuberous sclerosis complex 1-gen-2018 Canevini M. P.La Briola F.Peron A.Vignoli A. + Article (author) -
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 1-gen-2020 Turner K.Peron A.Vignoli A. + Article (author) -
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 1-gen-2020 Maitz S.Milani D.Peron A. + Article (author) -
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 1-gen-2018 Peron, AngelaVignoli, AglaiaBriola, Francesca LaMorenghi, EmanuelaTansini, LuciaBulfamante, GaetanoTerraneo, SilviaGhelma, FilippoCanevini, Maria Paola + Article (author) -
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder 1-feb-2021 Peron, Angela + Article (author) -
Do patients with tuberous sclerosis complex have an increased risk for malignancies? 1-giu-2016 A. PeronA. VignoliF. La BriolaE. MontanariE. MorenghiF. GhelmaG. BulfamanteG. CefaloM.P. Canevini + Article (author) -
Dramatic relapse of seizures after everolimus withdrawal 3-ago-2017 A. VignoliA. PeronM.P. Canevini + Article (author) -
Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures? 1-gen-2018 Peron, AngelaVignoli, AglaiaCanevini, Maria Paola + Article (author) -
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome 1-gen-2017 A. VignoliA. PeronM.P. Canevini + Article (author) -
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background 27-mar-2020 Savini M. N.Peron A.La Briola F.Cervi F.Canevini M. P.Vignoli A. + Article (author) -