CLEMENTI, MAURIZIO

CLEMENTI, MAURIZIO  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
6q27 subtelomeric deletions: Is there a specific phenotype? 2011 SALVIATI, LEONARDOCLEMENTI, MAURIZIO + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - -
766 cases of oral cleft in Italy. Data from Emilia romagna (IMER) and Northeast Italy (NEI) registers 1994 CLEMENTI, MAURIZIO + EUROPEAN JOURNAL OF EPIDEMIOLOGY - -
[Epidemiological and molecular study of autosomal dominant polycystic kidney disease (ADPKD) in the province of Vicenza, Italy: possible founder effect?]. 2010 CLEMENTI, MAURIZIONalesso FRonco C. + GIORNALE ITALIANO DI NEFROLOGIA - -
A genome-wide association study of anorexia nervosa 2014 FAVARO, ANGELASANTONASTASO, PAOLOBRUSON, ALICECLEMENTI, MAURIZIODEGORTES, DANIELAFORZAN, MONICATENCONI, ELENA + MOLECULAR PSYCHIATRY - -
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling 2017 Favaro, AngelaSantonastaso, PaoloMonteleone, PalmieroBruson, AliceClementi, MaurizioDegortes, DanielaForzan, MonicaTenconi, ElenaGambaro, Giovanni + SCIENTIFIC REPORTS - -
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus 2014 ZANETTI, ALESSANDRATOMANIN, ROSELLARAMPAZZO, ANGELICARIGON, CHIARAGASPAROTTO, NICOLETTACASSINA, MATTEOCLEMENTI, MAURIZIOSCARPA, MAURIZIO JIMD REPORTS - -
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes 2016 CASSINA, MATTEOCLEMENTI, MAURIZIO + CLINICAL EPIGENETICS - -
A new clinical tool for assessing numerical abilities in neurological diseases: numerical activities of daily living 2014 SEMENZA, CARLOARCARA, GIORGIOBURGIO, FRANCESCABENAVIDES VARELA, SILVIA ELENACLEMENTI, MAURIZIO + FRONTIERS IN AGING NEUROSCIENCE - -
A new disease-causing mutation in the GAP-related domain of the NF1 gene 1993 ANGLANI, FRANCAMURGIA, ALESSANDRABEDIN, SILVIABERNARDI, FABIOLACLEMENTI, MAURIZIO + HUMAN MOLECULAR GENETICS - -
A NEW MUTATION IN THE GRD OF THE NF1 GENE 1993 MURGIA, ALESSANDRAANGLANI, FRANCACLEMENTI, MAURIZIO + - - -
A Novel Locus for Autosomal Dominant Cone and Cone-Rod Dystrophies Maps to the 6p Gene Cluster of Retinal Dystrophies 2005 M. ClementiTORMENE, ALMA PATRIZIA + INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE - -
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies 2005 CLEMENTI, MAURIZIO + INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE - -
A study of the impact of agricultural pesticide use on the prevalence of birth defects in northeast Italy 2007 CLEMENTI, MAURIZIOCAUSIN, ROBERTO + REPRODUCTIVE TOXICOLOGY - -
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 2017 CASSINA, MATTEOCERQUA, CRISTINASALVIATI, LEONARDOMARTINI, ALESSANDROCLEMENTI, MAURIZIOTREVISSON, EVA + EUROPEAN JOURNAL OF HUMAN GENETICS - -
Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research. 2011 CLEMENTI, MAURIZIO + AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS - -
ADPKD: Prototype of Cardiorenal Syndrome Type 4. 2010 CLEMENTI, MAURIZIORonco C. + INTERNATIONAL JOURNAL OF NEPHROLOGY - -
Advances in Alport syndrome diagnosis using next-generation sequencing. 2012 CLEMENTI, MAURIZIO + EUROPEAN JOURNAL OF HUMAN GENETICS - -
Advances in the pathogenesis of cardiorenal syndrome type 3 2015 BROCCA, ALESSANDRACLEMENTI, MAURIZIORonco, Claudio + OXIDATIVE MEDICINE AND CELLULAR LONGEVITY - -
ADVERSE EFFECTS OF PRENATAL METHIMAZOLE EXPOSURE 2001 CLEMENTI, MAURIZIO + TERATOLOGY - -
Advising Mothers on the Use of Medications during Breastfeeding : A Need for a Positive Attitude 2016 CLEMENTI, MAURIZIO + JOURNAL OF HUMAN LACTATION - -