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Brain & Development|June 20, 2008
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)A Renieri, F Mari, M A Mencarelli, et al.American Journal of Medical Genetics. Part A|December 31, 2013
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?M Mucciolo, P Magini, A Marozza, et al.BMC Nephrology|February 28, 2019
Non-collagen genes role in digenic Alport syndromeS Daga, C Fallerini, S Furini, et al.Journal of Medical Genetics|February 4, 2005
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasmsE Scala, F Ariani, F Mari, et al.Neuroscience|January 27, 2009
The XLMR gene ACSL4 plays a role in dendritic spine architectureI Meloni, V Parri, R De Filippis, et al.European Neurology|February 28, 2004
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophyS Gambelli, A Malandrini, F Ginanneschi, et al.Human Mutation|September 20, 2006
The Italian XLMR bank: a clinical and molecular databaseC Pescucci, R Caselli, F Mari, et al.European Journal of Medical Genetics|May 22, 2007
A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic earsR Caselli, M A Mencarelli, F T Papa, et al.European Journal of Medical Genetics|November 8, 2006
2q24-q31 deletion: report of a case and review of the literatureC Pescucci, R Caselli, S Grosso, et al.Journal of Human Genetics|May 16, 2007
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGHR Caselli, C Speciale, C Pescucci, et al.Pageof 8