IRIS
SERVETTI, MARTINA
 Distribuzione geografica
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Continente #
EU - Europa 1.013
AS - Asia 15
NA - Nord America 2
SA - Sud America 1
Totale 1.031
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Nazione #
IT - Italia 1.013
CN - Cina 15
US - Stati Uniti d'America 2
BR - Brasile 1
Totale 1.031
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Città #
Genoa 697
Genova 116
Vado Ligure 103
Rapallo 94
Beijing 4
Bordighera 3
Ashburn 2
Registro 1
Totale 1.020
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Nome #
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 162
Optimization of Transcription Factor-Driven Neuronal Differentiation from Human Induced Pluripotent Stem Cells for Disease Modelling and Drug Screening 120
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 115
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs 96
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs 94
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome 78
The Neurobiology of Pain, Emotion, and Stress Regulation in Suicide: Role of Cannabinoid, Opioid, Vanilloid, and Galaninergic Systems – A Systematic Review of Postmortem Evidence 70
Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion 70
Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms 69
Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs). 62
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 60
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. 60
null 3
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Totale 1.062
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Categoria #
all - tutte 4.129
article - articoli 2.534
book - libri 0
conference - conferenze 1.595
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 8.258
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202119 0 0 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
2024/2025426 10 18 2 21 36 28 32 105 19 29 65 61
2025/2026234 88 25 60 61 0 0 0 0 0 0 0 0
Totale 1.062