BOERI, SILVIA
 Distribuzione geografica
Continente #
EU - Europa 314
Totale 314
Nazione #
IT - Italia 314
Totale 314
Città #
Genoa 138
Vado Ligure 90
Rapallo 63
Genova 20
Bordighera 3
Totale 314
Nome #
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances 58
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs 55
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs 52
Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms 36
Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs). 33
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. 32
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 24
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 21
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report 11
null 3
null 3
Decreased free D-aspartate levels in the blood serum of patients with schizophrenia 2
Totale 330
Categoria #
all - tutte 1.973
article - articoli 1.107
book - libri 0
conference - conferenze 866
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 3.946


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/202229 0 0 0 3 0 0 0 9 0 2 0 15
2022/202391 12 10 2 4 7 8 5 3 18 0 19 3
2023/2024108 1 5 2 11 7 30 13 7 6 9 6 11
2024/2025102 8 14 3 18 35 24 0 0 0 0 0 0
Totale 330