IRIS
ULIANA, Vera
 Distribuzione geografica
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Continente #
EU - Europa 243
NA - Nord America 176
AS - Asia 110
AF - Africa 12
Totale 541
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Nazione #
US - Stati Uniti d'America 173
IT - Italia 119
SG - Singapore 64
IE - Irlanda 52
CN - Cina 35
SE - Svezia 22
DE - Germania 15
CI - Costa d'Avorio 12
AT - Austria 11
TR - Turchia 7
FR - Francia 5
BE - Belgio 4
CZ - Repubblica Ceca 4
CA - Canada 3
GB - Regno Unito 3
NL - Olanda 3
IN - India 2
LT - Lituania 2
ES - Italia 1
HK - Hong Kong 1
KZ - Kazakistan 1
LV - Lettonia 1
PL - Polonia 1
Totale 541
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Città #
Singapore 56
Dublin 52
Chandler 39
Bologna 25
Boardman 24
Parma 22
Ann Arbor 16
Shanghai 15
Ashburn 14
Abidjan 12
Vienna 11
Beijing 7
Ravenna 7
Rome 7
Los Angeles 6
New York 6
Bremen 5
Izmir 5
Marseille 5
Milan 5
Wilmington 5
Brussels 4
Capo di Ponte 4
Cascina 4
Princeton 4
Santa Clara 4
Amsterdam 3
Des Moines 3
Fremont 3
Munich 3
Nanjing 3
Seattle 3
Verona 3
Brescia 2
Cologno al Serio 2
Neviano degli Arduini 2
Olomouc 2
Pisa 2
Prague 2
Prineville 2
Pune 2
Quattro Castella 2
Reggio Emilia 2
Siena 2
Terracina 2
Toronto 2
Tuzla 2
Almaty 1
Chicago 1
Dallas 1
Dearborn 1
Falconara Marittima 1
Formigine 1
Frankfurt am Main 1
Guangzhou 1
Hefei 1
Jiaxing 1
Jinan 1
London 1
Madrid 1
Modena 1
Naples 1
Ottawa 1
Piacenza 1
Redwood City 1
Riga 1
Somma Vesuviana 1
Taglio Di Po 1
Warsaw 1
Totale 435
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Nome #
Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene 87
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I 68
Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers 59
A patient with mosaic USP9X gene variant 43
Mechanism of action and clinical efficacy of CDK4/6 inhibitors in BRCA-mutated, estrogen receptor-positive breast cancers: Case report and literature review 40
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing 40
Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant 37
Prognostic significance of germline BRCA mutations in patients with HER2-POSITIVE breast cancer 35
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy 29
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup 20
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa 18
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond 16
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1. 16
Functional HRD by RAD51 identifies BRCA1 VUS associated with loss of gene function and response to DNA-damaging agents 15
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory 11
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features 11
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases 10
SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern 9
Totale 564
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Categoria #
all - tutte 3.520
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 3.520
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202017 0 0 0 0 1 2 3 0 2 6 2 1
2020/20219 0 0 1 3 1 0 2 1 0 1 0 0
2021/202236 1 0 9 1 2 0 4 6 0 1 1 11
2022/2023155 8 13 9 14 23 14 1 10 51 3 6 3
2023/2024132 8 16 7 3 1 19 14 7 5 21 15 16
2024/2025201 28 47 37 51 38 0 0 0 0 0 0 0
Totale 564