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Journal of Pediatric Endocrinology & Metabolism : JPEM|November 16, 2018
Early higher dosage of alglucosidase alpha in classic Pompe diseaseMarco Spada, Veronica Pagliardini, Federica Ricci, et al.Italian Journal of Pediatrics|January 5, 2017
Metabolic progression to clinical phenotype in classic Fabry diseaseMarco Spada, David Kasper, Veronica Pagliardini, et al.European Journal of Medical Genetics|August 6, 2008
Clinical and molecular characterization of 40 patients with Noonan syndromeGiovanni Battista Ferrero, Giuseppina Baldassarre, Angelo Giovanni Delmonaco, et al.European Journal of Medical Genetics|July 13, 2007
Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patientsGiovanni Battista Ferrero, Elisa Biamino, Lorena Sorasio, et al.European Journal of Medical Genetics|November 6, 2021
A novel COLEC10 mutation in a child with 3MC syndromeMartina Migliorero, Silvia Kalantari, Valeria Bracciamà, et al.European Journal of Pediatrics|July 21, 2009
Remittent hyperammonemia in congenital portosystemic shuntGiovanni Battista Ferrero, Francesco Porta, Elisa Biamino, et al.American Journal of Medical Genetics. Part A|May 21, 2013
Progressive extreme heterotopic calcificationMargherita Silengo, Claudio Defilippi, Elga Belligni, et al.International Journal of Pediatric Otorhinolaryngology|June 1, 2016
Prevention and management of hearing loss in syndromic craniosynostosis: A case seriesElisa Biamino, Andrea Canale, Michelangelo Lacilla, 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.European Journal of Human Genetics : EJHG|July 2, 2009
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patientGiovanni Battista Ferrero, Cédric Howald, Lucia Micale, et al.Pageof 4