IRIS
VARI, MARIA STELLA
 Distribuzione geografica
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Continente #
EU - Europa 1.509
Totale 1.509
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Nazione #
IT - Italia 1.509
Totale 1.509
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Città #
Genova 796
Rapallo 269
Genoa 255
Vado Ligure 179
Bordighera 10
Totale 1.509
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Nome #
Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study 136
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 126
Next-generation sequencing for genetic diagnosis of epileptic encephalopathies in infancy 110
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum 109
Clinical dissection of early onset absence epilepsy in children and prognostic implications. 109
Safety of Overnight Switch from Brand-Name to Generic Levetiracetam. 105
Management of genetic epilepsies: From empirical treatment to precision medicine 105
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy 102
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 99
Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy 82
Alterations in the alfa(2) gamma ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies 70
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 58
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 54
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 42
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 37
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 29
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 27
Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus 26
An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy 24
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 23
Current and promising therapeutic options for Dravet syndrome 21
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities 16
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature 15
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 14
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 13
Totale 1.552
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Categoria #
all - tutte 6.796
article - articoli 6.538
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 13.334
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020266 0 0 0 0 29 36 54 32 36 44 30 5
2020/2021140 11 4 10 9 2 21 6 10 14 23 18 12
2021/2022185 9 5 8 15 15 17 13 39 18 24 5 17
2022/2023303 17 23 7 30 58 45 1 27 55 2 34 4
2023/2024226 5 24 12 30 21 45 13 20 7 10 18 21
2024/2025187 25 40 19 44 59 0 0 0 0 0 0 0
Totale 1.552