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American Journal of Medical Genetics. Part A|February 18, 2017
Constitutional bone impairment in Noonan syndromeGiuseppina Baldassarre, Alessandro Mussa, Diana Carli, et al.The Journal of Pediatrics|July 4, 2016
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening ProtocolAlessandro Mussa, Cristina Molinatto, Giuseppina Baldassarre, et al.Journal of Clinical Research in Pediatric Endocrinology|January 1, 2014
Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndromeValentina Peiretti, Alessandro Mussa, Francesca Feyles, et al.Pediatric Research|August 29, 2014
α-Fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromesAlessandro Mussa, Severo Pagliardini, Veronica Pagliardini, et al.American Journal of Medical Genetics. Part A|July 25, 2019
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndromeAndrea Gazzin, Diana Carli, Fabio Sirchia, et al.Italian Journal of Pediatrics|June 4, 2009
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disabilityElga F Belligni, Elisa Biamino, Cristina Molinatto, et al.Pediatrics|June 22, 2017
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann SyndromeAlessandro Mussa, Cristina Molinatto, Flavia Cerrato, et al.European Journal of Medical Genetics|February 28, 2012
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidismElga Fabia Belligni, Eleonora Di Gregorio, Elisa Biamino, et al.American Journal of Medical Genetics. Part A|August 7, 2013
Prevalence of Beckwith-Wiedemann syndrome in North West of ItalyAlessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.American Journal of Medical Genetics. Part A|April 26, 2016
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examplesElisa Giorgio, Andrea Ciolfi, Elisa Biamino, et al.Pageof 2