| Nome |
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Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability., file e0feeaab-b7d2-44d2-e053-6605fe0a8db0
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49
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Recurrent torticollis caused by dissecting vertebral artery aneurysm in a pediatric patient results of endovascular treatment by use of coil embolization case report, file e0feeaa5-e7e9-44d2-e053-6605fe0a8db0
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4
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Efficacy and safety of levetiracetam: an add-on trial in children with refractory epilepsy, file e0feeaa5-f000-44d2-e053-6605fe0a8db0
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4
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L-2 Hydroxyglutaric Aciduria Magnetization Transfer Contrast and Diffusion Weighted Magnetic Resonance Imaging Findings. A case Report, file e0feeaa5-f40a-44d2-e053-6605fe0a8db0
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4
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Intractable reflex audiogenic seizures in Aicardi syndrome, file e0feeaa5-e917-44d2-e053-6605fe0a8db0
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3
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2q24-q31 deletion: report of a case and review of the literature, file e0feeaa5-e918-44d2-e053-6605fe0a8db0
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3
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GM2 gangliosidosis variant B1 neuroradiological findings, file e0feeaa5-e9ae-44d2-e053-6605fe0a8db0
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3
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CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome, file e0feeaa5-f002-44d2-e053-6605fe0a8db0
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3
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Isoprostanes in distrophynopathy: evidence of increased oxidative stress, file e0feeaa5-f3d6-44d2-e053-6605fe0a8db0
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3
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The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP., file e0feeaa5-00df-44d2-e053-6605fe0a8db0
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2
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Efficacy and tolerability of add-on Lacosamide in children with Lennox-Gastaut syndrome, file e0feeaa5-e57e-44d2-e053-6605fe0a8db0
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2
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Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria, file e0feeaa5-e815-44d2-e053-6605fe0a8db0
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2
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Clinical features of psychogenic non-epileptic seizures in prepubertal and pubertal patients with idiopathic epilepsy, file e0feeaa5-e84f-44d2-e053-6605fe0a8db0
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2
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Multiple neuroendocrine disorder in Salla disease, file e0feeaa5-e89e-44d2-e053-6605fe0a8db0
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2
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Craniofacial dyssynostosis: case report and review, file e0feeaa5-e9b1-44d2-e053-6605fe0a8db0
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2
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Efficacy and safety of rufinamide in children under four years of age with drug-resistant epilepsies, file e0feeaa5-ea09-44d2-e053-6605fe0a8db0
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2
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Private inherited microdeletion/microduplications: implications in clinical practice, file e0feeaa5-ea61-44d2-e053-6605fe0a8db0
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2
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Efficacy and tolerability of add-on lacosamide in children with Lennox-Gastaut syndrome, file e0feeaa5-ec51-44d2-e053-6605fe0a8db0
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2
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Efficacy and safety of lacosamide in infants and young children with refractory focal epilepsy, file e0feeaa5-ef08-44d2-e053-6605fe0a8db0
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2
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Levetiracetam monotherapy for childhood occipital epilepsy of gastaut, file e0feeaa5-ef48-44d2-e053-6605fe0a8db0
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2
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Epilepsy and vaccinations: Italian guidelines, file e0feeaa5-ef75-44d2-e053-6605fe0a8db0
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2
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Linear scleroderma associated with progressive brain atrophy, file e0feeaa5-f0fc-44d2-e053-6605fe0a8db0
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2
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Bathing epilepsy: report of two Caucasian cases, file e0feeaa5-f14e-44d2-e053-6605fe0a8db0
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2
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Aicardi syndrome with favorable outcome: case report and review, file e0feeaa5-f3d2-44d2-e053-6605fe0a8db0
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2
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Levetiracetam monotherapy for children and adolescents with benign rolandic seizures, file e0feeaa5-f3d4-44d2-e053-6605fe0a8db0
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2
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null, file e0feeaa7-3d44-44d2-e053-6605fe0a8db0
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2
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null, file e0feeaa8-b1e9-44d2-e053-6605fe0a8db0
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2
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Topiramate effects on plasma serotonin levels in children with epilepsy, file e0feeaa4-bced-44d2-e053-6605fe0a8db0
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1
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Spermatogenesis in a man with complete deletion of USP9Y, file e0feeaa4-c1a1-44d2-e053-6605fe0a8db0
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1
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Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis., file e0feeaa4-dc78-44d2-e053-6605fe0a8db0
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1
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Efficacy and safety of topiramate in infants according to epilepsy syndromes, file e0feeaa4-e428-44d2-e053-6605fe0a8db0
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1
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Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review, file e0feeaa4-e449-44d2-e053-6605fe0a8db0
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1
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Management of status dystonicus in children. Cases reportand review, file e0feeaa4-eb69-44d2-e053-6605fe0a8db0
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1
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Efficacy and safety of topiramate in refractory epilepsy of childhood: long-term follow-up study, file e0feeaa4-f300-44d2-e053-6605fe0a8db0
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1
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Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA, file e0feeaa5-00de-44d2-e053-6605fe0a8db0
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1
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Lacosamide in children with refractory status epilepticus. A multicenter Italian experience, file e0feeaa5-669a-44d2-e053-6605fe0a8db0
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1
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Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy, file e0feeaa5-6a99-44d2-e053-6605fe0a8db0
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1
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Lacosamide efficacy in epileptic syndromes with continuous spike and waves during slow sleep (CSWS), file e0feeaa5-715c-44d2-e053-6605fe0a8db0
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1
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Oxidative stress in children affected by epileptic encephalopathies, file e0feeaa5-8995-44d2-e053-6605fe0a8db0
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1
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Precocious puberty with trisomy X syndrome, file e0feeaa5-e7f5-44d2-e053-6605fe0a8db0
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1
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Selective mutism, speech delay, dysmorphisms, and deletion of the short arm of chromosome 18: a distinct entity?, file e0feeaa5-e7f6-44d2-e053-6605fe0a8db0
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1
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Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss a provisionally unique genetic syndrome, file e0feeaa5-e90a-44d2-e053-6605fe0a8db0
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1
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Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation, file e0feeaa5-e9be-44d2-e053-6605fe0a8db0
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1
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Benign convulsions associated with mild gastroenteritis: a multicenter clinical study, file e0feeaa5-ea92-44d2-e053-6605fe0a8db0
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1
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Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa, file e0feeaa5-eac5-44d2-e053-6605fe0a8db0
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1
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Pubertal disorders in inv dup(15) syndrome, file e0feeaa5-ee22-44d2-e053-6605fe0a8db0
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1
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Ethylmalonic encephalopathy: further clinical and neuroradiological characterization, file e0feeaa5-eed7-44d2-e053-6605fe0a8db0
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1
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Hot water epilepsy and focal malformation of the parietal cortex development, file e0feeaa5-ef22-44d2-e053-6605fe0a8db0
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1
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Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy, file e0feeaa5-f004-44d2-e053-6605fe0a8db0
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1
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Central precocious puberty and abnormal chromosomal patterns, file e0feeaa5-f010-44d2-e053-6605fe0a8db0
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1
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Endocrine disorders in two sisters affected by MELAS syndrome, file e0feeaa5-f05a-44d2-e053-6605fe0a8db0
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1
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Long-term follow-up in children with benign convulsions associated with gastroenteritis, file e0feeaa5-f308-44d2-e053-6605fe0a8db0
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1
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De novo complete trisomy 5p clinical and neuroradiological findings, file e0feeaa5-f322-44d2-e053-6605fe0a8db0
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1
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A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features, file e0feeaa5-f387-44d2-e053-6605fe0a8db0
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1
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Zonisamide in children and young adults with refractory epilepsy: an open label, multicenter Italian study, file e0feeaa5-f38b-44d2-e053-6605fe0a8db0
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1
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Seizures and electroencephalographic findings in CDKL5 mutations: case report and review, file e0feeaa7-0beb-44d2-e053-6605fe0a8db0
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1
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3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age, file e0feeaa7-0c9e-44d2-e053-6605fe0a8db0
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1
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Typical absence seizures associated with localization-related epilepsy: a clinical and electroencephalographic characterization, file e0feeaa7-3744-44d2-e053-6605fe0a8db0
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1
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Brain mitochondrial impairment in ethylmalonic encephalopathy, file e0feeaa7-4362-44d2-e053-6605fe0a8db0
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1
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Plasmapheresis in a child affected by acute disseminated encephalomyelitis, file e0feeaa9-5bbf-44d2-e053-6605fe0a8db0
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1
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Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability., file e0feeaaa-145b-44d2-e053-6605fe0a8db0
|
1
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| Totale |
146 |