LEONARDI, EMANUELA

LEONARDI, EMANUELA  

Dipartimento di Scienze Biomediche - DSB  

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Risultati 1 - 20 di 59 (tempo di esecuzione: 0.043 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Molecular genetics applied to clinical practice: the Cx26 hearing impairment 1999 POLLI RLEONARDI EMURGIA, ALESSANDRA + BRITISH JOURNAL OF AUDIOLOGY - -
Cx26 deafness: mutation analysis and clinical variability 1999 MURGIA, ALESSANDRAPOLLI R.LEONARDI E.ARSLAN, EDOARDOZACCHELLO, FRANCO + JOURNAL OF MEDICAL GENETICS - -
Prevalence and Expression of Cx26 Mutations 2001 POLLI RLEONARDI EMURGIA, ALESSANDRA + - - -
Connexin 36 35delG does not represent a mutational hot spot. 2003 MURGIA, ALESSANDRALEONARDI E + HUMAN GENETICS - -
A novel deletion involving the Connexin-30 gene, del(GJB6-D13S1854) found in trans with mutations in the GJB2 gene (Connexin 26) in subjects with DFNB1 non syndromic hearing impairment 2005 LEONARDI EMURGIA, ALESSANDRA + JOURNAL OF MEDICAL GENETICS - -
Molecular characterization of large VHL deletions by Quantitative Real-Time PCR: the hypothesis of an Alu-mediated mechanism underlying VHL gene rearrangements 2006 POLLI RLEONARDI EMURGIA, ALESSANDRA + MOLECULAR DIAGNOSIS & THERAPY - -
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 2007 POLLI RLEONARDI EBETTELLA ETOLDO, IRENEBATTISTELLA, PIER ANTONIOSARTORI, STEFANOMURGIA, ALESSANDRA + - - European Workin Group on Rett Sindrome
Adding structural information to the von Hippel-Lindau (VHL) tumor suppressor interaction network 2009 LEONARDI, EMANUELAMURGIA, ALESSANDRATOSATTO, SILVIO FEBS LETTERS - -
Deletions and Mutations in the Acidic Lipid-binding Region of the Plasma Membrane Ca2+ Pump A STUDY ON DIFFERENT SPLICING VARIANTS OF ISOFORM 2 2010 BRINI, MARISAOTTOLINI, DENISLEONARDI, EMANUELATOSATTO, SILVIO + THE JOURNAL OF BIOLOGICAL CHEMISTRY - -
Patologia molecolare CDKL5 in una casistica di 170 individui non relati con disturbo pervasivo dello sviluppo e manifestazioni epilettiche ad insorgenza precoce 2010 POLLI RMARTELLA MBUSANA CLEONARDI, EMANUELAANDREOLI WTOSATTO S. C. EMURGIA A. + - - Società italiana di Genetica Umana SIGU 2010
A Novel WT1 Gene Mutation in a Three-Generation Family with Progressive Isolated Focal Segmental Glomerulosclerosis 2010 BENETTI, ELISALEONARDI, EMANUELAARTIFONI, LINATOSATTO, SILVIO + CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY - -
Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA) 2010 LEONARDI, EMANUELAMURGIA, ALESSANDRA + ANNALS OF HUMAN GENETICS - -
A computational model of the LGI1 protein suggests a common binding site for ADAM proteins 2011 LEONARDI, EMANUELAVANIN, STEFANOBUSOLIN, GIORGIATOSATTO, SILVIO + PLOS ONE - -
Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation 2011 BUSOLIN, GIORGIALEONARDI EVITIELLO, LIBERORIGON, LAURATOSATTO, SILVIO + NEUROLOGY - -
Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population 2011 LEONARDI, EMANUELAMARTELLA, MADDALENATOSATTO, SILVIOMURGIA, ALESSANDRA ANNALS OF HUMAN GENETICS - -
On the evolution of the Drosophila blue light photoreceptor CRYPTOCHROME and its relation to the visual system 2011 MAZZOTTA, GABRIELLA MARGHERITALEONARDI, EMANUELATOSATTO, SILVIOCOSTA, RODOLFO + - - -
In silico blood genotyping from exome sequencing data 2012 Minervini G.Leonardi E.FERRARI, CARLOTOSATTO, SILVIO + CEUR WORKSHOP PROCEEDINGS - Proceedings of the Workshop on Annotation, Interpretation and Management of Mutations (AIMM-2012)
Fly Cryptochrome and the Visual System 2012 MAZZOTTA, GABRIELLA MARGHERITALEONARDI, EMANUELASPOLAORE, BARBARAMARTIN MARTIN, ALBERTO JESUSMAMMI, STEFANOTOSATTO, SILVIOCOSTA, RODOLFO + - - Conference book
Novel CDKL5 splicing variant in a boy with early-onset seizures 2012 POLLI, ROBERTALEONARDI, EMANUELABETTELLA, ELISAMURGIA, ALESSANDRA + AMERICAN JOURNAL OF HUMAN GENETICS - -
Allele drop out and MECP2 genetic testing 2012 BETTELLA, ELISAPOLLI, ROBERTALEONARDI, EMANUELAMURGIA, ALESSANDRA - - -