IRIS
ROSTI, GIULIA
 Distribuzione geografica
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Continente #
EU - Europa 309
Totale 309
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Nazione #
IT - Italia 309
Totale 309
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Città #
Genova 105
Genoa 96
Vado Ligure 75
Rapallo 30
Bordighera 3
Totale 309
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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 131
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
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
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 22
Abnormalities of pubertal development and gonadal function in Noonan syndrome 10
Totale 326
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Categoria #
all - tutte 1.496
article - articoli 1.041
book - libri 0
conference - conferenze 455
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 2.992
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202033 0 0 0 0 0 7 5 4 8 5 2 2
2020/202121 1 1 0 3 6 0 0 4 0 4 0 2
2021/202237 3 0 0 3 2 5 1 8 2 3 0 10
2022/202349 7 5 1 2 4 4 0 1 5 0 17 3
2023/202476 2 0 0 8 4 15 12 7 4 8 4 12
2024/202583 4 12 1 19 24 23 0 0 0 0 0 0
Totale 326