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Current Opinion in Endocrinology, Diabetes, and Obesity|October 31, 2012
Hypophosphatemic ricketsGiampiero I Baroncelli, Benedetta Toschi, Silvano Bertelloni
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|November 4, 2015
Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural GrowthSilvano Bertelloni, Giampiero I Baroncelli, Francesco Massart, et al.
Case Reports in Pediatrics|January 22, 2016
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?Gianluigi Laccetta, Benedetta Toschi, Antonella Fogli, et al.
Molecular Syndromology|December 13, 2017
Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann DiseaseGiampiero I Baroncelli, Elena Ferretti, Cecilia M Pini, et al.
American Journal of Medical Genetics. Part A|June 29, 2012
Acro-cardio-facial syndrome: a microdeletion syndrome?Benedetta Toschi, Angelo Valetto, Veronica Bertini, et al.
Frontiers in Genetics|August 6, 2019
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical SyndromeSimone Gana, Angelo Valetto, Benedetta Toschi, et al.
Molecular Syndromology|May 20, 2016
Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of LiteratureAngelo Valetto, Veronica Bertini, Angela Michelucci, et al.
Hormones (Athens, Greece)|April 30, 2013
IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 geneSilvano Bertelloni, Giampiero I Baroncelli, Eleonora Dati, et al.
Journal of Human Genetics|September 11, 2015
625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disabilityVeronica Bertini, Francesca Cambi, Rossella Bruno, et al.
European Journal of Medical Genetics|May 3, 2012
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsyAngelo Valetto, Alessandro Orsini, Veronica Bertini, et al.
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