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Mostrati risultati da 41 a 60 di 66
Data di pubblicazione Titolo Autore(i) File
1-gen-2011 Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome Neri, Giovanni; Zollino, Marcella; Gurrieri, Fiorella; Orteschi, Daniela; Marangi, Giuseppe
1-gen-2011 The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story Gurrieri, Fiorella; Pomponi, Maria Grazia; Pietrobono, Roberta; Lucci Cordisco, Emanuela; Silvestri, Evelina; Storniello, G; Neri, Giovanni
1-gen-2011 Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. Zollino, Marcella; Gurrieri, Fiorella; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; Leuzzi, V.
1-gen-2011 No Correlation between X Chromosome Inactivation Pattern and Autistic Spectrum Disorders in an Italian Cohort of Patients Cannelli, Natalia; Tabolacci, Elisabetta; Rendeli, Claudia; Neri, Giovanni; Gurrieri, Fiorella
1-gen-2010 PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism Satterfield, Bc; Garcia, Ra; Gurrieri, Fiorella; Schwartz, Charles
1-gen-2009 Defective oxytocin function: a clue to understanding the cause of autism Gurrieri, Fiorella; Neri, Giovanni
1-gen-2009 Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder Gurrieri, Fiorella; Neri, Giovanni; Boccuto, Luigi
1-gen-2009 Elements of Morphology: standard terminology for the hands and feet Biesecker, Leslie; Aase, John; Clericuzio, Carol; Gurrieri, Fiorella; Temple, Karin; Toriello, Helga
1-gen-2009 Genetic imprinting:the paradigm of Prader Willi and Angelman syndromes Gurrieri, Fiorella; Accadia, Maria Rosaria
1-gen-2009 Defective loxytocin function: a clue to understanding the cause of autism? Neri, Giovanni; Gurrieri, Fiorella
1-gen-2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients Gurrieri, Fiorella; Franco, Brunella
1-gen-2008 Hypo-phosphorylation of salivary peptidome a clue to the molecular pathogenesis of autism spectrum disorders Castagnola, Massimo; Messana, Irene; Inzitari, Rosanna; Fanali, Chiara; Morelli, Alessia; Pecoraro, Anna Maria; Neri, Giovanni; Torrioli, Maria Giulia; Gurrieri, Fiorella
1-gen-2007 Oral-facial-digital syndromes:review and diagnostic guidelines Gurrieri, Fiorella; Franco, Brunella; Toriello, Helga; Neri, Giovanni
1-gen-2007 Oral-facial-digital syndromes: review and diagnostic guidelines Gurrieri, Fiorella; Franco, B.; Toriello, H.; Neri, Giovanni
1-gen-2007 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case Garavelli, Livia; Guareschi, E; Errico, S; Simoni, A; Bergonzini, P; Zollino, Marcella; Gurrieri, Fiorella; Mancini, Gm; Schot, R; Van Der Spek, Pj; Frigieri, G; Zonari, P; Albertini, E; Giustina, Ed; Amarri, S; Bianchini, G; Dobyns, Wb; Neri, Giovanni
1-gen-2007 Malattie da difetti dell'imprinting genomico Gurrieri, Fiorella
1-gen-2007 Difetti genetici dello sviluppo embrionale Gurrieri, Fiorella; Sangiorgi, Eugenio
1-gen-2005 A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer Lucci-Cordisco, E; Zollino, Marcella; Baglioni, S; Mancuso, I; Lecce, R; Gurrieri, Fiorella; Crucitti, Antonio; Papi, L; Neri, G; Genuardi, Maurizio
1-gen-2005 Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome Tabolacci, Elisabetta; Zollino, Marcella; Lecce, Rosetta; Sangiorgi, Eugenio; Gurrieri, Fiorella; Leuzzi, Vincenzo; M Opitz, John; Neri, Giovanni
1-gen-2002 Inv dup 15 syndrome: Case report with epilepsy onset in the first year Battaglia, Domenica Immacolata; Gurrieri, Fiorella; Pane, Marika; Donvito, V.; Cesarini, L.; Acquafondata, Celeste; Lettori, Donatella; Veredice, Chiara; Russo, L.; Neri, G.; Guzzetta, F.
Mostrati risultati da 41 a 60 di 66
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