IRIS
SERVETTI, MARTINA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 500
Totale 500
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 500
Totale 500
Salva come PNG Salva come JPEG
Città #
Genoa 184
Genova 116
Vado Ligure 103
Rapallo 94
Bordighera 3
Totale 500
Salva come PNG Salva come JPEG
Nome #
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 131
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
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome 49
Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion 41
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
The Neurobiology of Pain, Emotion, and Stress Regulation in Suicide: Role of Cannabinoid, Opioid, Vanilloid, and Galaninergic Systems – A Systematic Review of Postmortem Evidence 9
null 3
null 3
Totale 526
Salva come PNG Salva come JPEG
Categoria #
all - tutte 2.715
article - articoli 1.583
book - libri 0
conference - conferenze 1.132
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 5.430
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202026 0 0 0 0 0 0 5 4 8 5 2 2
2020/202121 1 1 0 3 6 0 0 4 0 4 0 2
2021/202254 3 0 0 4 2 5 1 12 2 4 0 21
2022/2023127 14 14 3 6 12 14 5 7 21 0 27 4
2023/2024140 1 9 0 13 9 39 14 9 8 12 9 17
2024/2025124 10 18 2 21 36 28 9 0 0 0 0 0
Totale 526