MAITZ, SILVIA BEATRICE

MAITZ, SILVIA BEATRICE  

Universita' degli Studi di MILANO  

Risultati 1 - 8 di 8 (tempo di esecuzione: 0.008 secondi).
Titolo Data di pubblicazione Autore(i) Tipo File Abstract
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies 1-gen-2010 D. MilaniS. MaitzL. Larizza + Article (author) -
Clinical and molecular diagnosis of beckwith-wiedemann syndrome with single-or multi-locus imprinting disturbance 26-mar-2021 Fontana L.Tabano S.Maitz S.Colapietro P.Garzia E.Sirchia S. M.Miozzo M. + Article (author) -
Duplicazioni parziali di SHOX associate alla Sindrome di Mayer-Rokitansky-Kuster-Hauser 1-nov-2009 C. GervasiniS. TabanoP. ColapietroMAITZ, SILVIA BEATRICEL. LarizzaM. Miozzo + Conference Object -
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature 1-gen-2011 A. CeredaS. MaitzP. FinelliL. Larizza + 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) -
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 1-lug-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 5-ago-2013 M. CalvelloS. TabanoP. ColapietroS. MaitzPANSA, ALESSANDRAC. AugelloB. GentilinL. LarizzaS.M. SirchiaM. Miozzo + Article (author) -
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome 24-lug-2020 Crippa M.Bestetti I.Maitz S.Spano A.Masciadri M.Larizza L.Finelli P. + Article (author) -