IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

SPENA, SILVIA
 Distribuzione geografica
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Continente #
EU - Europa 3.112
NA - Nord America 2.202
AS - Asia 1.988
SA - Sud America 196
AF - Africa 47
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 5
Totale 7.560
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Nazione #
US - Stati Uniti d'America 2.088
GB - Regno Unito 1.278
CN - Cina 673
SG - Singapore 567
IT - Italia 521
SE - Svezia 274
DE - Germania 227
RU - Federazione Russa 200
HK - Hong Kong 193
VN - Vietnam 156
BR - Brasile 142
FR - Francia 117
IN - India 101
CA - Canada 92
NL - Olanda 92
BD - Bangladesh 84
UA - Ucraina 77
DK - Danimarca 72
FI - Finlandia 71
IE - Irlanda 52
KR - Corea 42
JP - Giappone 40
TR - Turchia 40
ES - Italia 34
ID - Indonesia 30
EU - Europa 29
BE - Belgio 27
CO - Colombia 18
CI - Costa d'Avorio 13
MX - Messico 13
AR - Argentina 10
PL - Polonia 10
ZA - Sudafrica 10
AT - Austria 8
AU - Australia 8
CZ - Repubblica Ceca 8
IQ - Iraq 8
IR - Iran 8
CL - Cile 7
EC - Ecuador 7
RO - Romania 7
SA - Arabia Saudita 7
CH - Svizzera 6
EG - Egitto 6
KE - Kenya 6
MY - Malesia 6
PH - Filippine 6
NO - Norvegia 4
UY - Uruguay 4
UZ - Uzbekistan 4
VE - Venezuela 4
AZ - Azerbaigian 3
BG - Bulgaria 3
GR - Grecia 3
KZ - Kazakistan 3
LT - Lituania 3
LU - Lussemburgo 3
MA - Marocco 3
NG - Nigeria 3
PT - Portogallo 3
TN - Tunisia 3
TW - Taiwan 3
BY - Bielorussia 2
GT - Guatemala 2
JM - Giamaica 2
KG - Kirghizistan 2
NP - Nepal 2
NZ - Nuova Zelanda 2
PE - Perù 2
PY - Paraguay 2
XK - ???statistics.table.value.countryCode.XK??? 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
BB - Barbados 1
BH - Bahrain 1
BN - Brunei Darussalam 1
CG - Congo 1
DZ - Algeria 1
EE - Estonia 1
ET - Etiopia 1
GI - Gibilterra 1
HN - Honduras 1
HR - Croazia 1
IL - Israele 1
IS - Islanda 1
JO - Giordania 1
LV - Lettonia 1
MD - Moldavia 1
MK - Macedonia 1
OM - Oman 1
PA - Panama 1
PK - Pakistan 1
PR - Porto Rico 1
QA - Qatar 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
TT - Trinidad e Tobago 1
YE - Yemen 1
Totale 7.586
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Città #
Southend 1.196
Singapore 342
Ashburn 235
Chandler 189
Hong Kong 173
Beijing 136
Milan 136
Wilmington 99
San Jose 92
Seattle 87
Fairfield 73
Ann Arbor 71
Los Angeles 67
Princeton 63
Council Bluffs 56
Dublin 52
Jacksonville 47
Dallas 46
Woodbridge 46
Dearborn 44
Hanover 42
Ho Chi Minh City 42
Santa Clara 42
Houston 40
Bengaluru 39
Hanoi 38
Nanjing 37
Toronto 37
New York 34
Frankfurt am Main 33
Shanghai 33
Helsinki 32
Moscow 29
Rome 29
Ottawa 28
Cambridge 27
Redwood City 27
Des Moines 26
Jinan 26
Lauterbourg 26
Mountain View 25
Guangzhou 24
Redmond 24
Hefei 23
Serra 23
Buffalo 22
Munich 21
Phoenix 21
Tokyo 21
Hangzhou 20
Jakarta 18
São Paulo 18
Tianjin 18
Somerville 16
Brussels 15
Fuzhou 15
Hebei 15
Sakarya 15
Berlin 14
Bühl 14
Shenyang 14
Bogotá 13
Chennai 13
Chicago 13
Abidjan 12
Andover 12
Boardman 12
Cangzhou 12
Wuhan 12
Washington 11
Changsha 10
Da Nang 10
Waanrode 10
London 9
Nanchang 9
San Diego 9
The Dalles 9
Turin 9
Columbus 8
Dong Ket 8
Madrid 8
Naples 8
Pavia 8
Turku 8
Zhengzhou 8
Amsterdam 7
Fremont 7
Medford 7
Mumbai 7
Nuremberg 7
Rio de Janeiro 7
Taizhou 7
Biên Hòa 6
Bologna 6
Carini 6
Kunming 6
Mannheim 6
Montreal 6
North Bergen 6
Shenzhen 6
Totale 4.651
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Nome #
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome 673
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites 358
Genetic Polymorphisms of Functional Candidate Genes and Recurrent Acute Otitis Media With or Without Tympanic Membrane Perforation 340
NUOVE MUTAZIONI PUNTIFORMI E DELEZIONI ESONICHE DEL GENE EP300 IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 304
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene 303
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 300
Prediction of Factor VIII inhibitor development in the SIPPET cohort by mutational analysis and Factor VIII antigen measurement 274
Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript 264
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire 261
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients 256
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 255
Congenital afibrinogenemia : intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene 251
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 246
Mutational Repertoire in the SIPPET Cohort and Prediction of FVIII Inhibitor Risk 233
Genetic polymorphisms and the development of invasive bacterial infections in children 232
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME 223
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene 214
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs 208
The Influence of F8 Mutation and Thrombophilic Genetic Markers on Bleeding Phenotype of Patients Affected with Severe Hemophilia A in the SIPPET Cohort 204
Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency 202
Congenital hypofibrinogenemia : characterization of two missense mutations affecting fibrinogen assembly and secretion 199
Impact of genetic polymorphisms on paediatric atopic dermatitis 196
Uniparental disomy of chromosome 4 including a novel deletion in the FGA gene that causes congenital afibrinogenemia 191
Development of a specific monoclonal antibody to detect male cells expressing the rps4y1 protein 190
Molecular genetics of quantitative fibrinogen disorders 188
Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon 171
Characterization of the genetic basis of FXI deficiency in fourteen unrelated patients 171
Molecular characterization of two novel mutations causing factor XI deficiency : a splicing defect and a missense mutation responsible for a CRM+ defect 166
Missense or splicing mutation? The case of a fibrinogen Bβ-chain mutation causing severe hypofibrinogenemia 157
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia 151
Gender equity in hemophilia: need for healthcare, familial, and societal advocacy 134
Ultra-Rare Syndromes : the Example of Rubinstein-Taybi Syndrome 134
Worldwide SARS-CoV-2 haplotype distribution in early pandemic 86
null 72
Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A 59
Rapid genomic analysis for the early identification of complement abnormalities in adults with transplant associated thrombotic microangiopathy 5
null 3
Totale 7.874
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Categoria #
all - tutte 19.193
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 19.193
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021132 0 0 0 0 0 0 0 0 0 0 87 45
2021/2022538 51 17 24 25 32 30 22 28 70 95 43 101
2022/2023670 84 91 53 83 39 107 34 47 52 27 28 25
2023/2024443 28 30 26 28 98 46 20 26 21 25 41 54
2024/20251.024 40 93 23 101 86 51 35 114 73 100 75 233
2025/20261.891 219 111 160 150 200 126 300 95 178 152 200 0
Totale 7.874