Sfoglia per Autore  

Opzioni
Mostrati risultati da 41 a 60 di 77
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Catechol-O-Methyltransferase (COMT) Val158Met Polymorphism and Eating Disorders: Data From a New Biobank and Meta-Analysis of Previously Published Studies 2017 Collantoni, EnricoSolmi, MarcoGallicchio, DavideSantonastaso, PaoloMENEGUZZO, PAOLOClementi, MaurizioPINATO, CLAUDIAForzan, MonicaCassina, MatteoSiani, RobertaTenconi, ElenaVeronese, NicolaFavaro, Angela + EUROPEAN EATING DISORDERS REVIEW - -
Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1 2017 TREVISSON, EVACASSINA, MATTEOOPOCHER, ENRICOVICENZI, VIRGINIALUCCHETTA, MARTAPARROZZANI, RAFFAELEMIGLIONICO, GIACOMOMARDARI, RODICAVISCARDI, ELISABETTAMIDENA, EDOARDOCLEMENTI, MAURIZIO JOURNAL OF NEURO-ONCOLOGY - -
Congenital anomalies in contaminated sites: A multisite study in Italy 2017 CASSINA, MATTEOCLEMENTI, MAURIZIO + INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH - -
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 - -
RETINAL VASCULAR ABNORMALITIES IN A LARGE COHORT OF PATIENTS AFFECTED BY NEUROFIBROMATOSIS TYPE 1: A Study Using Optical Coherence Tomography Angiography. 2017 PARROZZANI, RAFFAELEPILOTTO, ELISABETTACLEMENTI, MAURIZIOFRIZZIERO, LUISALEONARDI, FRANCESCACONVENTO, ENRICAMIGLIONICO, GIACOMOPERRINI, PIERDAVIDETREVISSON, EVACASSINA, MATTEOMIDENA, EDOARDO + RETINA - -
Human teratogens and genetic phenocopies. Understanding pathogenesis through human genes mutation 2017 CASSINA, MATTEOCAGNOLI, GIULIA ANNAZUCCARELLO, DANIELADI GIANANTONIO, ELENACLEMENTI, MAURIZIO EUROPEAN JOURNAL OF MEDICAL GENETICS - -
Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa 2017 CASSINA, MATTEOCLEMENTI, MAURIZIODEGORTES, DANIELAFAVARO, ANGELAFORZAN, MONICASANTONASTASO, PAOLOTENCONI, ELENA + THE AMERICAN JOURNAL OF PSYCHIATRY - -
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 - -
The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency 2016 Andrea Desbats, MariaMORBIDONI, VALERIASILIC-BENUSSI, MICOLDOIMO, MARACIMINALE, VINCENZOCASSINA, MATTEOBASSO, GIUSEPPESALVIATI, LEONARDOTREVISSON, EVA + HUMAN MOLECULAR GENETICS - -
Functional connectivity correlates of response inhibition impairment in anorexia nervosa 2016 COLLANTONI, ENRICOTENCONI, ELENADEGORTES, DANIELAManara, RenzoCLEMENTI, MAURIZIOCASSINA, MATTEOSANTONASTASO, PAOLOFAVARO, ANGELA + PSYCHIATRY RESEARCH. NEUROIMAGING - -
Prevalence, characteristics, and survival of children with esophageal atresia: A 32-year population-based study including 1,417,724 consecutive newborns 2016 CASSINA, MATTEORUOL, MICHELEPERTILE, RICCARDOMIDRIO, PAOLAVICENZI, VIRGINIAGAMBA, PIERGIORGIOCLEMENTI, MAURIZIO + BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY - -
Clinical and genetic correlates of decision making in anorexia nervosa 2016 TENCONI, ELENADEGORTES, DANIELACLEMENTI, MAURIZIOCOLLANTONI, ENRICOCASSINA, MATTEOSANTONASTASO, PAOLOFAVARO, ANGELA + NEUROPSYCHOLOGY, DEVELOPMENT, AND COGNITION. SECTION A, JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY - -
Serotonin transporter gene polymorphism in eating disorders: Data from a new biobank and META-analysis of previous studies 2016 SOLMI, MARCOGALLICCHIO, DAVIDECOLLANTONI, ENRICOCLEMENTI, MAURIZIOCASSINA, MATTEOFONTANA, FABIOLAGIANNUNZIO, VALERIASiani, RobertaSANTONASTASO, PAOLOTENCONI, ELENAVERONESE, NICOLAFAVARO, ANGELA + THE WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY - -
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 2016 CAO, MICHELANGELODONA', MARTASEMPLICINI, CLAUDIOCASSINA, MATTEOSORARU', GIANNISTRAMARE, ROBERTOSALVIATI, LEONARDOPEGORARO, ELENA + NEUROGENETICS - -
FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome. 2015 CASSINA, MATTEOSALVIATI, LEONARDOCLEMENTI, MAURIZIO + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - American journal of medical genetics. Part A
Forkhead Box G1 Gene Haploinsufficiency: An Emerging Cause of Dyskinetic Encephalopathy of Infancy 2015 Bertossi CCassina MToldo INosadini MSuppiej ASartori S + NEUROPEDIATRICS - -
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay. 2015 CASARIN, ALBERTOTREVISSON, EVACASSINA, MATTEOCLEMENTI, MAURIZIOSALVIATI, LEONARDO + CLINICAL CHEMISTRY AND LABORATORY MEDICINE - -
14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype? 2014 CASSINA, MATTEOTOLDO, IRENEMURGIA, ALESSANDRAS. Sartori + BRAIN & DEVELOPMENT - -
First-trimester exposure to metformin and risk of birth defects: a systematic review and meta-analysis. 2014 CASSINA, MATTEOLITTA, PIETRO SALVATORECLEMENTI, MAURIZIO + HUMAN REPRODUCTION UPDATE - -
Genetics of coenzyme q10 deficiency. 2014 DOIMO, MARADESBATS, MARIA ANDREACASSINA, MATTEOTREVISSON, EVASALVIATI, LEONARDO + MOLECULAR SYNDROMOLOGY - -
Mostrati risultati da 41 a 60 di 77
Legenda icone

  •  file ad accesso aperto
  •  file disponibili sulla rete interna
  •  file disponibili agli utenti autorizzati
  •  file disponibili solo agli amministratori
  •  file sotto embargo
  •  nessun file disponibile