Search Results - "Ruga, Ezia Maria"
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Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome
Published in The Journal of pediatrics (01-06-2014)“…Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural…”
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Brain magnetic resonance findings in symptomatic congenital cytomegalovirus infection
Published in Pediatric radiology (01-08-2011)“…Background Congenital cytomegalovirus (CMV) infection can lead to severe neurological sequelae, but a defined brain magnetic resonance (MR) pattern and MR…”
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Expression and distribution of the adrenomedullin system in newborn human thymus
Published in PloS one (15-05-2014)“…Adrenomedullin (AM) is a multifunctional peptide endowed with various biological actions mediated by the interaction with the calcitonin receptor-like receptor…”
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4
Herpes simplex virus‐induced anti‐N‐methyl‐d‐aspartate receptor encephalitis: a systematic literature review with analysis of 43 cases
Published in Developmental medicine and child neurology (01-08-2017)“…Aim To conduct a systematic literature review on patients with biphasic disease with herpes simplex virus (HSV) encephalitis followed by…”
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Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency
Published in American journal of medical genetics. Part A (01-03-2010)“…Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency associated with clinical disease caused by weakly virulent…”
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6
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-g receptor 1 deficiency
Published in American journal of medical genetics. Part A (01-03-2010)“…Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency associated with clinical disease caused by weakly virulent…”
Get full text
Journal Article