BOERI, SILVIA
 Distribuzione geografica
Continente #
EU - Europa 220
Totale 220
Nazione #
IT - Italia 220
Totale 220
Città #
Genoa 133
Rapallo 63
Genova 20
Bordighera 3
Vado Ligure 1
Totale 220
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 45
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs 44
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs 37
Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms 28
Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs). 24
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. 23
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 11
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 9
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report 7
null 3
null 3
Totale 234
Categoria #
all - tutte 1.397
article - articoli 764
book - libri 0
conference - conferenze 633
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 2.794


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
2024/20256 6 0 0 0 0 0 0 0 0 0 0 0
Totale 234