IRIS
SERVETTI, MARTINA
 Distribuzione geografica
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Continente #
EU - Europa 384
Totale 384
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Nazione #
IT - Italia 384
Totale 384
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Città #
Genoa 171
Genova 116
Rapallo 94
Bordighera 3
Totale 384
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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 117
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
Whole exome sequencing (WES) and functional analyses suggest synergistic effects of deleterious variants in two candidate genes for Poland Syndrome 38
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs 37
Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion 35
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
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Totale 408
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Categoria #
all - tutte 1.996
article - articoli 1.188
book - libri 0
conference - conferenze 808
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 3.992
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202048 3 1 2 3 6 7 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
2024/20256 6 0 0 0 0 0 0 0 0 0 0 0
Totale 408