Search Results - "Di Paolo, Nilde"
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Brainstem arteriovenous malformation presenting with dyspraxic handwriting in a young girl
Published in Brain & development (Tokyo. 1979) (01-06-2014)“…Abstract We report the case of a 11-year-old girl who developed an isolated hand-writing disorder with dysgraphia at the beginning of the school year in the…”
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Is advanced neuroimaging for neuroradiologists? A systematic review of the scientific literature of the last decade
Published in Neuroradiology (01-12-2016)“…Introduction To evaluate if advanced neuroimaging research is mainly conducted by imaging specialists, we investigated the number of first authorships by…”
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Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review
Published in Radiologia medica (01-06-2014)“…Purpose Neurofibromatosis type 1 (NF1) is a multisystem autosomal dominant disorder that primarily involves the skin and the nervous system. Development of…”
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Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss
Published in Molecular cytogenetics (20-03-2015)“…Sensorineural hearing impairment is a common pathological manifestation in patients affected by X-linked intellectual disability. A few cases of interstitial…”
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Atypical Presentation of Ewing's Sarcoma with a Single Left Orbital Metastasis
Published in Polish journal of radiology (01-01-2015)“…We present an uncommon case of Ewing's sarcoma in a 16-year-old boy. This case can be considered unique because of the atypical presentation, normal laboratory…”
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Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family
Published in Polish journal of radiology (01-01-2013)“…To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300). Brain MRI and MR…”
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Atypical Presentation of Ewing's Sarcoma with a Single Left Orbital Metastasis
Published in Polish journal of radiology (01-01-2015)“…BACKGROUNDWe present an uncommon case of Ewing's sarcoma in a 16-year-old boy. CASE REPORTThis case can be considered unique because of the atypical…”
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Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family
Published in Polish journal of radiology (01-10-2013)“…BACKGROUNDTo describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300)…”
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