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pro vyhledávání: '"Vartzelis G"'
Background: Parinaud’s syndrome, also known as dorsal midbrain syndrome, is characterized by a combination of signs, including upgaze palsy, convergence–retraction nystagmus, eyelid retraction and pupillary dissociation. It is caused by pretectal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::b9dd204a709158eb6df893bef4e071ca
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2987085
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2987085
Akademický článek
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Background: Pediatric-onset multiple sclerosis (POMS) is considered a complex disease entity with many genetic and environmental factors implicated in its pathogenesis. Linkage studies in Caucasian adult populations consistently demonstrate the major
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::63d5cfb08a771e66eff7a6a412001661
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997639
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997639
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a recently described entity so far exclusively in East Asian children. AESD diagnosis is based on clinicoradiologic criteria, often without pleocytic CSF and characteriz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::e1dfd1754bd8f23c6b510047b3fc63be
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3104810
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3104810
Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::0be478d6055055042c56736e28b86b63
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997660
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997660
Mutations in KCNQ2 gene, encoding for voltage-gated K+ channel subunit, may result in a wide spectrum of early-onset epileptic disorders. The phenotype of the disease varies from “benign familial neonatal seizures” to “severe epileptic encephal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::8ab372304f06495aacf3d099c40ea6ab
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3106383
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3106383
The aim of this study was to compare the immunogenicity and side-effects of hepatitis A virus (HAV) vaccination between periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) patients and healthy controls who have not been previously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::899b5cf1e79e5e4861f0e1af1215459d
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3122777
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3122777