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European Journal of Medical Genetics|December 5, 2006
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGHManuela Priolo, Roberto Ciccone, Irene Bova, et al.European Journal of Human Genetics : EJHG|September 25, 2008
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplicationsMaria Clara Bonaglia, Roberto Giorda, Angelo Massagli, et al.Journal of Medical Genetics|June 10, 2011
XX males SRY negative: a confirmed cause of infertilityAnnalisa Vetro, Roberto Ciccone, Roberto Giorda, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 15, 2009
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genesIlaria Carboni, Elena Andreucci, Maria R Caruso, et al.Journal of Medical Genetics|October 4, 2007
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndromeDaniela Concolino, Elena Rossi, Pietro Strisciuglio, et al.Molecular Cytogenetics|January 30, 2014
MECP2 duplication phenotype in symptomatic females: report of three further casesFrancesca Novara, Alessandro Simonati, Federico Sicca, et al.Chromosoma|February 16, 2008
Evolutionary and clinical neocentromeres: two faces of the same coin?Oronzo Capozzi, Stefania Purgato, Ludovica Verdun di Cantogno, et al.Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association|March 3, 2015
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar strokeAnna Bersano, Orsetta Zuffardi, Leonardo Pantoni, et al.European Journal of Human Genetics : EJHG|March 14, 2008
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletionClaudia Torniero, Bernardo Dalla Bernardina, Francesca Novara, et al.Plos One|January 24, 2008
Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?Flavio Rizzolio, Silvia Bione, Cinzia Sala, et al.Pageof 6