IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

RUSCONI, DANIELA
 Distribuzione geografica
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Continente #
EU - Europa 2.468
NA - Nord America 1.862
AS - Asia 1.573
SA - Sud America 132
AF - Africa 45
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 5
Totale 6.091
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Nazione #
US - Stati Uniti d'America 1.789
GB - Regno Unito 981
IT - Italia 515
CN - Cina 493
SG - Singapore 368
DE - Germania 258
VN - Vietnam 246
SE - Svezia 206
RU - Federazione Russa 131
BD - Bangladesh 123
HK - Hong Kong 121
BR - Brasile 96
FR - Francia 78
IN - India 62
CA - Canada 58
NL - Olanda 52
FI - Finlandia 50
UA - Ucraina 45
IE - Irlanda 37
DK - Danimarca 35
KR - Corea 30
JP - Giappone 29
TR - Turchia 28
CI - Costa d'Avorio 25
BE - Belgio 22
ID - Indonesia 16
EU - Europa 15
MX - Messico 11
PL - Polonia 11
UZ - Uzbekistan 10
CO - Colombia 9
AR - Argentina 8
ES - Italia 8
AU - Australia 6
CL - Cile 6
CZ - Repubblica Ceca 6
GR - Grecia 5
MA - Marocco 5
MY - Malesia 5
ZA - Sudafrica 5
AT - Austria 4
NO - Norvegia 4
PH - Filippine 4
VE - Venezuela 4
EC - Ecuador 3
EG - Egitto 3
IQ - Iraq 3
KG - Kirghizistan 3
KZ - Kazakistan 3
LU - Lussemburgo 3
PE - Perù 3
PS - Palestinian Territory 3
SA - Arabia Saudita 3
TH - Thailandia 3
TW - Taiwan 3
AE - Emirati Arabi Uniti 2
BG - Bulgaria 2
BO - Bolivia 2
GE - Georgia 2
HU - Ungheria 2
IR - Iran 2
JO - Giordania 2
KE - Kenya 2
MK - Macedonia 2
NG - Nigeria 2
NP - Nepal 2
PK - Pakistan 2
RO - Romania 2
XK - ???statistics.table.value.countryCode.XK??? 2
AL - Albania 1
AZ - Azerbaigian 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CG - Congo 1
CH - Svizzera 1
DJ - Gibuti 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EE - Estonia 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
IL - Israele 1
LK - Sri Lanka 1
LT - Lituania 1
MD - Moldavia 1
PT - Portogallo 1
PY - Paraguay 1
SK - Slovacchia (Repubblica Slovacca) 1
TT - Trinidad e Tobago 1
Totale 6.103
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Città #
Southend 881
Singapore 227
Chandler 206
Ashburn 205
Hong Kong 113
Beijing 98
Milan 97
Fairfield 80
Wilmington 78
Ho Chi Minh City 75
Hanoi 69
Ann Arbor 68
Seattle 66
San Jose 65
Los Angeles 52
Princeton 50
Council Bluffs 46
Dearborn 44
Woodbridge 43
Dallas 39
Rome 38
Dublin 37
Santa Clara 37
Toronto 36
Houston 35
Frankfurt am Main 32
New York 32
Boardman 31
Mountain View 31
Guangzhou 27
Da Nang 26
Abidjan 25
Helsinki 24
Cambridge 23
Jacksonville 23
Nanjing 23
Jinan 22
Lauterbourg 22
Kiez 21
Tokyo 21
Hangzhou 20
Serra 20
Buffalo 19
Munich 19
Bengaluru 18
Des Moines 17
Phoenix 17
Brussels 16
Redmond 16
Chicago 15
Falls Church 15
Delhi 14
Shanghai 14
São Paulo 14
Turin 13
Moscow 12
Naples 11
Columbus 10
Changsha 9
Jakarta 9
Ottawa 9
Sakarya 9
Shenyang 9
The Dalles 9
Bühl 8
Florence 8
Fremont 8
Haiphong 8
San Diego 8
Warsaw 8
Andover 7
Hebei 7
Jiaxing 7
Nuremberg 7
Tianjin 7
Bari 6
Bogotá 6
Brescia 6
Bến Tre 6
Cangzhou 6
Carini 6
Edinburgh 6
Fuzhou 6
Grafing 6
Hefei 6
Lanzhou 6
London 6
Medford 6
Nürnberg 6
Palermo 6
Redwood City 6
Siena 6
Stockholm 6
Taizhou 6
Vicopisano 6
Waanrode 6
Wuhan 6
Aprilia 5
Athens 5
Atlanta 5
Totale 3.732
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Nome #
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients : New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 372
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome 338
Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion 326
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene 306
NUOVE MUTAZIONI PUNTIFORMI E DELEZIONI ESONICHE DEL GENE EP300 IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 306
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 301
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype 300
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome 286
NSD1 intragenic deletion in a patient with Sotos/5q subtelomeric deletion syndrome combined phenotype without 5q35.3 deletion 280
Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations 279
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire 265
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients 263
Identification of balanced 4p16 paracentric inversions in three patients with Wolf-Hirschhorn phenotype not deleted for the WHS critical region 251
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype 248
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 248
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature. 247
Erythroid differentiation and maturation from peripheral CD34+ cells in liquid culture : cellular and molecular characterization 242
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes 241
Nuova delezione intragenica in NSD1 in un paziente che presenta fenotipo composto Sotos/delezione subtelomerica 5q 234
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME 227
Sindrome di Cornelia de Lange in un paziente portatore della Traslocazione t(5;15)(p13;q25.1): possibile effetto di posizione su NIPBL 216
SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case 196
Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome 196
AHSP (Alpha Hemoglobin Stabilizing Protein) Gene Expression during Normal and ß-Thalassemic Erythroid Differentiation 179
Totale 6.347
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Categoria #
all - tutte 15.174
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 15.174
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202116 0 0 0 0 0 0 0 0 0 0 0 16
2021/2022394 41 10 18 11 43 14 20 11 61 44 20 101
2022/2023590 89 92 50 62 41 90 24 52 41 11 35 3
2023/2024327 10 19 23 25 99 32 3 26 19 17 19 35
2024/2025701 30 71 14 88 40 30 16 72 46 80 45 169
2025/20261.595 165 76 105 117 162 90 312 49 109 103 223 84
Totale 6.347