IRIS
NOVARA, FRANCESCA
 Distribuzione geografica
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Continente #
NA - Nord America 1.175
EU - Europa 798
AS - Asia 558
OC - Oceania 14
AF - Africa 2
Continente sconosciuto - Info sul continente non disponibili 2
Totale 2.549
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Nazione #
US - Stati Uniti d'America 1.164
CN - Cina 553
IE - Irlanda 278
UA - Ucraina 147
FI - Finlandia 118
DE - Germania 83
IT - Italia 55
SE - Svezia 42
GB - Regno Unito 38
FR - Francia 23
AU - Australia 13
BE - Belgio 11
CA - Canada 11
IR - Iran 3
EU - Europa 2
IN - India 2
MU - Mauritius 2
NL - Olanda 2
BG - Bulgaria 1
NZ - Nuova Zelanda 1
Totale 2.549
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Città #
Chandler 287
Dublin 278
Jacksonville 191
Nanjing 162
Nanchang 68
Ashburn 67
Ann Arbor 60
Beijing 59
Shenyang 55
Wilmington 52
Lawrence 48
Medford 48
Princeton 48
New York 44
Jiaxing 39
Hebei 37
Helsinki 32
Boardman 31
Changsha 27
Hangzhou 27
Tianjin 25
Hefei 14
Milan 12
Brussels 11
Shanghai 11
Sydney 11
Des Moines 10
Toronto 9
Woodbridge 9
Seattle 7
Norwalk 6
Pavia 6
Verona 6
Zhengzhou 6
San Antonio 4
Fairfield 3
Kunming 3
Redwood City 3
San Francisco 3
Washington 3
Auburn Hills 2
Bergamo 2
Dearborn 2
Falls Church 2
Houston 2
Jinan 2
Kish 2
Ningbo 2
Pune 2
Wuhan 2
Aquila 1
Ballabio 1
Como 1
Edmonton 1
Falkenstein 1
Florence 1
Fuzhou 1
Guangzhou 1
Haikou 1
Kashan 1
Lanzhou 1
Latina 1
London 1
Los Angeles 1
Mcallen 1
Melbourne 1
Orange 1
Ottawa 1
Phoenix 1
Pittsburgh 1
Portland 1
San Martino Siccomario 1
Sofia 1
Taizhou 1
Totale 1.866
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Nome #
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. 93
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 83
Identificazione di una nuova famiglia di dupliconi sul cromosoma 9 umano che ha dato origine ad un cromosoma marcatore soprannumerario con meccanismo somatico. 81
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. 76
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 72
High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma 71
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 70
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. 70
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. 68
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 68
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach. 67
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 66
A set of new duplicons isolated from human chromosome 9 plays a role in driving primate chromosome evolution. 66
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case 66
MEF2C deletions and mutations versus duplications: a clinical comparison. 65
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 65
A wide methodological approach to identify a large duplication in CFTR gene in a CF patinet uncharacterised by sequencing analysis. 64
Functional and genetic aberrations of in vitro cultured marrow-derived mesenchymal stromal cells of patients with classical Philedelphia-negative myeloproliferative neoplasms 62
Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature. 62
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. 58
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings. 58
MECP2 duplication phenotype in symptomatic females: report of three cases. 55
In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marroz of sarcoma patients. 52
Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy. 52
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. 52
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature 52
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. 51
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 50
Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease. 48
Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms. 48
Periventericular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. 46
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileètic encephalopathy. 46
Refininf the phenotype associated with MEF2C haploinsufficiency. 44
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. 43
Cell cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors. 43
Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation 42
Safety and efficacy of ombitasvir/paritaprevir/ritonavir/dasabuvir plus ribavirin in patients over 65 years with HCV genotype 1 cirrhosis 41
Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell-therapy approaches: further insights in the search for a fetal calf serum substitute. 39
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings 38
Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease. 38
MECP2 duplication phenotype in symptomatic females: Report of three further cases 37
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. 35
Spleen endothelial cells from patients with myelofibrosisharbor the JAK2V617F mutation 33
Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation 30
Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion. 30
De novo unbalanced translocations have a complex history/aetiology 29
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. 27
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. 23
Totale 2.575
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Categoria #
all - tutte 8.107
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 8.107
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201912 0 0 0 0 0 0 0 0 0 5 2 5
2019/2020652 190 249 1 32 3 32 9 31 2 73 27 3
2020/2021284 38 33 6 36 2 35 2 45 6 38 37 6
2021/2022225 3 12 9 1 5 5 2 17 15 4 29 123
2022/2023784 84 62 6 85 70 94 2 28 330 4 16 3
2023/2024267 26 65 10 16 28 82 2 22 3 13 0 0
Totale 2.575