Sfoglia per Autore

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Titolo Data di pubblicazione Autore(i) Tipo File Abstract
Submicroscopic genomic alterations detected by array CGH analysis in a cohort of patients with Silver Russell syndrome found negative to classical genetic and epigenetic tests 1-mag-2014 M. CrippaA. SironiL. LarizzaP. Finelli + Conference Object -
Central nervous system developmental disorder in Noonan syndrome: a genomic approach 1-mag-2014 M. CrippaI. BestettiA. SironiP. Finelli + Conference Object -
MBD5 molecular screening on Smith Magenis-like Syndrome patients without the typical 17p11.2 deletion 20-mag-2016 M. SciarrilloI. BestettiA. SironiP. Finelli + Conference Object -
Microdeletion in two unrelated patients with intellectual disability 23-nov-2016 SCIARRILLO, MARIASIRONI, ALESSANDRAI. BestettiP. Finelli + Conference Object -
Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome 1-gen-2018 E. A. ColomboA. LocatelliA. SironiL. FontanaP. FinelliC. GervasiniL. Larizza + Article (author) -
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability 1-lug-2018 Terragni, BenedettaSironi, AlessandraCatusi, IlariaGervasini, CristinaFinelli, Palma + Article (author) -
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature 1-set-2018 Bestetti I.Sironi A.Catusi I.Mariani M.Larizza L.Castronovo C.Finelli P. + Article (author) -
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features 1-nov-2018 Cirello VGiorgini VCastronovo CSironi ALarizza LPersani LFinelli PFugazzola L. + Article (author) -
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression 1-ago-2019 Castronovo CSironi AZimbalatti DBestetti ICrippa MLarizza LFinelli P. + Article (author) -
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders 11-feb-2022 Alessandra SironiPalma Finelli + Article (author) -
Mostrati risultati da 1 a 10 di 10
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