Search Results - "RAMPAZZO, A."
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New FIG4 gene mutations causing aggressive ALS
Published in European journal of neurology (01-03-2018)Get full text
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TCRαβ CD19 depletion in allogeneic haematopoietic stem cell transplantation performed for Hurler syndrome
Published in Bone marrow transplantation (Basingstoke) (01-03-2016)Get full text
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Establishing the Feasibility of Face Transplantation in Granulomatosis With Polyangiitis
Published in American journal of transplantation (01-07-2016)“…Granulomatosis with polyangiitis (GPA; formerly Wegener's granulomatosis) is a rare vasculitis that commonly starts in the craniofacial region. We report a…”
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LGI1 microdeletion in autosomal dominant lateral temporal epilepsy
Published in Neurology (24-04-2012)“…To characterize clinically and genetically a family with autosomal dominant lateral temporal epilepsy (ADLTE) negative to LGI1 exon sequencing test. All…”
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P21.18 The role of visual electrophysiology in mucopolysaccharidoses: a cohort study
Published in Clinical neurophysiology (2011)Get full text
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Effects of topical administration of 1% brinzolamide on intraocular pressure in clinically normal horses
Published in Equine veterinary journal (01-11-2008)“…Summary Reasons for performing study: Only few drugs with limited efficacy are available for topical treatment of equine glaucoma. Objective: To evaluate the…”
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A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43
Published in Human molecular genetics (01-11-1995)“…Autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVD, MIM 107970) is one of the major causes of juvenile sudden death. We have previously…”
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Intrapopulational polymorphism of nucleolus organizer regions in Serrapinnus notomelas (Characidae, Cheirodontinae) from the Paraná River
Published in Journal of fish biology (01-04-2008)“…Analysis of the nucleolus organizer regions by silver nitrate (AgNOR), fluorescent in situ hybridization (FISH) and C‐banding of Serrapinnus notomelas from the…”
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Eighteen-year follow-up of the first Italian MPSI patient treated with bone marrow transplantation
Published in Bone marrow transplantation (Basingstoke) (01-05-2008)Get full text
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Observing System Simulation Experiments for the assessment of temperature sampling strategies in the Mediterranean Sea
Published in Annales geophysicae (1988) (01-01-2003)“…For the first time in the Mediterranean Sea various temperature sampling strategies are studied and compared to each other by means of the Observing System…”
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Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias
Published in Human genetics (01-03-2004)Get full text
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Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias
Published in Human genetics (01-03-2004)Get full text
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Cytogenetic analysis and description of the sexual chromosome determination system ZZ/ZW of species of the fish genus Serrapinnus (Characidae, Cheirodontinae)
Published in Genetics and molecular research (01-01-2007)“…Four populations of Serrapinnus notomelas and one population of Serrapinnus sp.1, both belonging to the subfamily Cheirodontinae, were analyzed by Giemsa and…”
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Gene symbol: RYR2. Disease: Arrhythmogenic right ventricular cardiomyopathy type 2
Published in Human genetics (01-03-2004)Get full text
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Sarcomatoid Renal Cell Carcinoma with Osteogenic Differentiation and Paraneoplastic Hepatopathy in a Dog, possibly related to Human Stauffer's Syndrome
Published in Journal of comparative pathology (01-11-2003)“…Sarcomatoid renal cell carcinoma is an uncommon tumour in human beings, and osteogenic differentiation is a rare feature. This report describes such a case in…”
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Prevalence of Chlamydophila felis and Feline Herpesvirus 1 in Cats with Conjunctivitis in Northern Italy
Published in Journal of veterinary internal medicine (01-11-2003)“…The prevalence of Chlamydophila felis and feline herpesvirus 1(FHV-1)infection in cats with conjunctivitis in northern Italy was investigated by conventional…”
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La psychose de l’adolescent et du jeune adulte », sous le regard croisé pédopsychiatrie – psychiatrie adulte
Published in Neuropsychiatrie de l'enfance et de l'adolescence (01-10-2013)“…En psychiatrie adulte, certains adolescents présentent une symptomatologie psychotique associée à une histoire marquée par des dysfonctionnements patents dans…”
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Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy
Published in Circulation (New York, N.Y.) (07-03-2006)“…Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive myocardial atrophy with fibrofatty…”
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