ROSTI, GIULIA
 Distribuzione geografica
Continente #
EU - Europa 212
Totale 212
Nazione #
IT - Italia 212
Totale 212
Città #
Genova 105
Genoa 74
Rapallo 30
Bordighera 3
Totale 212
Nome #
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 114
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs 40
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs 35
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. 21
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 10
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 7
Totale 227
Categoria #
all - tutte 875
article - articoli 586
book - libri 0
conference - conferenze 289
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 1.750


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20199 0 0 0 0 0 0 0 0 0 0 5 4
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
2023/202460 2 0 0 8 4 15 12 7 4 8 0 0
Totale 227