Silvia Russo
Istituto Auxologico Italiano Istituto di Ricovero e Cura a Carattere Scientifico
129 papers found
Refreshing results…
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour
Download from www.researchgate.netX-linked Cornelia de Lange Syndrome owing to SMC1L1 mutations
Download from www.nature.comGermline mosaicism in Rett syndrome identified by prenatal diagnosis
UploadRefinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
Download from www.nature.comNo evidence for mosaicism in Silver-Russell syndrome
Download from www.ncbi.nlm.nih.govNine novel APC mutations in Italian FAP patients
Download from www.researchgate.netEpigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
Download from www.nature.comNovel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome
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