MAITZ, SILVIA BEATRICE

MAITZ, SILVIA BEATRICE  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Clinical and molecular diagnosis of beckwith-wiedemann syndrome with single-or multi-locus imprinting disturbance 2021 Fontana L.Tabano S.Maitz S.Colapietro P.Garzia E.Sirchia S. M.Miozzo M. + Article (author) -
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome 2020 Crippa M.Bestetti I.Maitz S.Spano A.Masciadri M.Larizza L.Finelli P. + 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 2020 Maitz S.Milani D.Peron A. + Article (author) -
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 2019 Giorgini V.Masciadri M.Marchi M.Gentilini D.Peron A.Savini M. N.Maitz S.Vignoli A.Larizza L. + Article (author) -
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome 2013 M. CalvelloS. TabanoP. ColapietroS. MaitzPANSA, ALESSANDRAC. AugelloB. GentilinL. LarizzaS.M. SirchiaM. Miozzo + Article (author) -
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature 2011 A. CeredaS. MaitzP. FinelliL. Larizza + Article (author) -
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies 2010 D. MilaniS. MaitzL. Larizza + Article (author) -
Duplicazioni parziali di SHOX associate alla Sindrome di Mayer-Rokitansky-Kuster-Hauser 2009 C. GervasiniS. TabanoP. ColapietroMAITZ, SILVIA BEATRICEL. LarizzaM. Miozzo + Conference Object -