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Mostrati risultati da 21 a 40 di 77
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders 2020 Cassina M. + ORPHANET JOURNAL OF RARE DISEASES - -
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 2020 Morbidoni V.Cassina M.Salviati L.Trevisson E. + JOURNAL OF MEDICAL GENETICS - -
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease 2020 Cassina M.Clementi M.Degortes D.Favaro A.Forzan M.Santonastaso P.Tenconi E. + NATURE GENETICS - -
Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement 2020 Bottesi G.Spoto A.Trevisson E.Vidotto G.Cassina M.Clementi M. + BRITISH JOURNAL OF DERMATOLOGY - -
Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies 2020 Cassina, MClementi, MDegortes, DFavaro, AForzan, MSantonastaso, PTenconi, E + ADDICTION BIOLOGY - -
Optic pathway glioma in type 1 neurofibromatosis: Review of its pathogenesis, diagnostic assessment, and treatment recommendations 2019 Cassina M.Frizziero L.Parrozzani R.Sorrentino U.Viscardi E.Miglionico G.Midena E.Clementi M.Trevisson E. + CANCERS - -
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas 2019 Trevisson, EvaMorbidoni, ValeriaForzan, MonicaFUMINI, VALENTINAParrozzani, RaffaeleCassina, MatteoMidena, EdoardoSalviati, LeonardoClementi, Maurizio + MOLECULAR GENETICS & GENOMIC MEDICINE - -
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders 2019 Cassina M.Clementi M.Degortes D.Forzan M. + CELL - -
Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches 2019 Cassina M.Clementi M.Degortes D.Favaro A.Forzan M.Tenconi E. + BIOLOGICAL PSYCHIATRY - -
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa 2019 Cassina M.Degortes D.Favaro A.Tenconi E. + NATURE GENETICS - -
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants 2019 Cassina, Matteo + HUMAN MOLECULAR GENETICS - -
Prevalence and survival of patients with anorectal malformations: A population-based study 2019 Cassina, MatteoFascetti Leon, FrancescoRuol, MicheleMidrio, PaolaClementi, MaurizioGamba, Piergiorgio + JOURNAL OF PEDIATRIC SURGERY - -
Pregnancy outcomes in women on metformin for diabetes or other indications among those seeking teratology information services 2018 Cassina, Matteo + BRITISH JOURNAL OF CLINICAL PHARMACOLOGY - -
Dysfunctional coping is related to impaired skin-related QoL and psychological distress in patients with Neurofibromatosis type 1 2018 M CassinaG BottesiE TrevissonD ZuccarelloG VidottoA SpotoM Clementi - - Atti del 2018 Joint Global Neurofibromatosis Conference
Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases 2018 Cassina, MatteoCALO', ANNAPAOLASalviati, LeonardoMONTALDI, ANNAMARIAClementi, Maurizio + EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY - -
DNA-based methods for age estimation 2018 Cassina, MatteoClementi, Maurizio - - P5 Medicine and Justice: Innovation, Unitariness and Evidence
Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa 2018 Tenconi, ECassina, MClementi, MDegortes, DFavaro, AngelaForzan, MSantonastaso, P. + MOLECULAR PSYCHIATRY - -
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 2018 Cassina, MatteoTrevisson, Eva + AMERICAN JOURNAL OF HUMAN GENETICS - -
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function 2018 Doimo, MaraCalderan, CristinaDesbats, Maria AndreaCerqua, CristinaCassina, MatteoSartori, GeppoTrevisson, EvaSalviati, Leonardo + HUMAN MUTATION - -
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 - -
Mostrati risultati da 21 a 40 di 77
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