ROSTI, GIULIA
 Distribuzione geografica
Continente #
EU - Europa 615
AS - Asia 17
NA - Nord America 2
SA - Sud America 1
Totale 635
Nazione #
IT - Italia 615
CN - Cina 10
VN - Vietnam 4
SG - Singapore 2
US - Stati Uniti d'America 2
BR - Brasile 1
ID - Indonesia 1
Totale 635
Città #
Genoa 402
Genova 105
Vado Ligure 75
Rapallo 30
Beijing 4
Bordighera 3
Ashburn 2
Ho Chi Minh City 2
Cao Lanh 1
Curitiba 1
Hanoi 1
Totale 626
Nome #
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 162
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
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era 73
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 61
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. 60
Genotypic characterization of undiagnosed patients with Skeletal Dysplasia as an essential factor to determine the management and follow-up: an NGS approach 58
Abnormalities of pubertal development and gonadal function in Noonan syndrome 52
Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia? 1
Totale 657
Categoria #
all - tutte 2.376
article - articoli 1.618
book - libri 0
conference - conferenze 656
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 4.650


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202116 0 0 0 0 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
2024/2025254 4 12 1 19 24 23 16 47 6 16 40 46
2025/2026160 57 16 33 54 0 0 0 0 0 0 0 0
Totale 657