ROSTI, GIULIA
 Distribuzione geografica
Continente #
EU - Europa 230
Totale 230
Nazione #
IT - Italia 230
Totale 230
Città #
Genova 105
Genoa 92
Rapallo 30
Bordighera 3
Totale 230
Nome #
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 117
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
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. 23
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 13
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 11
Totale 245
Categoria #
all - tutte 1.004
article - articoli 679
book - libri 0
conference - conferenze 325
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 2.008


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
2021/202237 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
2024/20252 2 0 0 0 0 0 0 0 0 0 0 0
Totale 245