IRIS
NOVARA, FRANCESCA
 Distribuzione geografica
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Continente #
NA - Nord America 1.692
EU - Europa 1.226
AS - Asia 1.176
SA - Sud America 129
OC - Oceania 17
AF - Africa 14
Continente sconosciuto - Info sul continente non disponibili 2
Totale 4.256
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Nazione #
US - Stati Uniti d'America 1.656
CN - Cina 702
IE - Irlanda 278
SG - Singapore 245
DE - Germania 217
FI - Finlandia 187
UA - Ucraina 147
HK - Hong Kong 137
RU - Federazione Russa 117
BR - Brasile 106
IT - Italia 75
GB - Regno Unito 61
SE - Svezia 49
VN - Vietnam 35
FR - Francia 29
CA - Canada 22
AU - Australia 14
PL - Polonia 13
BE - Belgio 12
CZ - Repubblica Ceca 12
IN - India 12
MX - Messico 10
ES - Italia 8
EC - Ecuador 6
LT - Lituania 6
NL - Olanda 6
AE - Emirati Arabi Uniti 5
AR - Argentina 5
TR - Turchia 5
VE - Venezuela 5
AT - Austria 4
AZ - Azerbaigian 4
CO - Colombia 4
JP - Giappone 4
BD - Bangladesh 3
ID - Indonesia 3
IR - Iran 3
KE - Kenya 3
SA - Arabia Saudita 3
SK - Slovacchia (Repubblica Slovacca) 3
UZ - Uzbekistan 3
ZA - Sudafrica 3
EU - Europa 2
JM - Giamaica 2
MU - Mauritius 2
NZ - Nuova Zelanda 2
OM - Oman 2
PK - Pakistan 2
PY - Paraguay 2
AL - Albania 1
BB - Barbados 1
BG - Bulgaria 1
BH - Bahrain 1
BO - Bolivia 1
DZ - Algeria 1
EG - Egitto 1
HN - Honduras 1
IL - Israele 1
IQ - Iraq 1
JO - Giordania 1
KG - Kirghizistan 1
MA - Marocco 1
MN - Mongolia 1
NG - Nigeria 1
PF - Polinesia Francese 1
PS - Palestinian Territory 1
RE - Reunion 1
TJ - Tagikistan 1
TN - Tunisia 1
Totale 4.256
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Città #
Chandler 287
Dublin 278
Jacksonville 192
Nanjing 163
Hong Kong 134
Dallas 127
Munich 122
Singapore 119
Ashburn 117
Beijing 114
Boardman 86
Helsinki 77
Nanchang 68
Ann Arbor 60
Shenyang 56
New York 55
Wilmington 52
Lawrence 48
Medford 48
Princeton 48
Jiaxing 39
Hebei 37
Los Angeles 35
Changsha 28
Hangzhou 28
Tianjin 27
Shanghai 26
Moscow 21
Buffalo 18
Turku 18
Redondo Beach 17
Hefei 14
Milan 14
Brussels 12
Ho Chi Minh City 12
Sydney 12
The Dalles 12
Toronto 12
Warsaw 11
Des Moines 10
São Paulo 10
Woodbridge 9
Brno 8
Brooklyn 8
Boston 7
Seattle 7
Zhengzhou 7
Columbus 6
Hanoi 6
Norwalk 6
Orem 6
Pavia 6
Stockholm 6
Verona 6
Denver 5
Falkenstein 5
London 5
San Francisco 5
Baku 4
Caserta 4
Chicago 4
Frankfurt am Main 4
Guangzhou 4
Jyväskylä 4
Kunming 4
Mexico City 4
Montreal 4
Poplar 4
Rio de Janeiro 4
San Antonio 4
Santa Clara 4
Washington 4
Biên Hòa 3
Brasília 3
Bratislava 3
Cachoeiro de Itapemirim 3
Chennai 3
Fairfield 3
Houston 3
Mumbai 3
Nairobi 3
Ningbo 3
Olomouc 3
Redwood City 3
Secaucus 3
Tashkent 3
Tokyo 3
Vienna 3
Wuhan 3
Ankara 2
Atlanta 2
Auburn Hills 2
Bargas 2
Belo Horizonte 2
Bergamo 2
Betim 2
Charlotte 2
Cuiabá 2
Curitiba 2
Dearborn 2
Totale 2.901
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Nome #
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature 249
Identificazione di una nuova famiglia di dupliconi sul cromosoma 9 umano che ha dato origine ad un cromosoma marcatore soprannumerario con meccanismo somatico. 134
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia. 127
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 127
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 124
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 119
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. 119
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 115
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach. 110
High resolution genome-wide array-comparative genomic hybridization in splenic marginal zone B-cell lymphoma 109
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case 108
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. 107
MEF2C deletions and mutations versus duplications: a clinical comparison. 104
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. 103
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy. 102
A set of new duplicons isolated from human chromosome 9 plays a role in driving primate chromosome evolution. 100
A wide methodological approach to identify a large duplication in CFTR gene in a CF patinet uncharacterised by sequencing analysis. 100
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 98
Functional and genetic aberrations of in vitro cultured marrow-derived mesenchymal stromal cells of patients with classical Philedelphia-negative myeloproliferative neoplasms 93
Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature. 93
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. 92
Safety and efficacy of ombitasvir/paritaprevir/ritonavir/dasabuvir plus ribavirin in patients over 65 years with HCV genotype 1 cirrhosis 92
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 89
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. 89
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. 84
Cell cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors. 83
Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease. 80
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings. 76
MECP2 duplication phenotype in symptomatic females: report of three cases. 76
MECP2 duplication phenotype in symptomatic females: Report of three further cases 75
Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms. 74
De novo unbalanced translocations have a complex history/aetiology 72
Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy. 71
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. 68
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileètic encephalopathy. 68
In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marroz of sarcoma patients. 67
Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease. 67
Refininf the phenotype associated with MEF2C haploinsufficiency. 66
Periventericular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. 62
Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation 61
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. 61
Spleen endothelial cells from patients with myelofibrosisharbor the JAK2V617F mutation 57
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings 54
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. 53
Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation 52
Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion. 51
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. 47
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. 43
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 12
Totale 4.283
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Categoria #
all - tutte 17.782
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 17.782
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021169 0 0 0 0 0 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
2023/2024307 26 65 10 16 28 82 2 22 3 23 8 22
2024/2025867 5 59 19 28 17 80 60 88 199 34 94 184
2025/2026801 120 121 170 150 194 46 0 0 0 0 0 0
Totale 4.283