CNR Institutional Research Information System

FRANCOFONTE, DANIELE
 Distribuzione geografica
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Continente #
AS - Asia 661
NA - Nord America 617
EU - Europa 547
SA - Sud America 158
Continente sconosciuto - Info sul continente non disponibili 61
AF - Africa 16
OC - Oceania 4
Totale 2.064
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Nazione #
US - Stati Uniti d'America 575
IT - Italia 286
SG - Singapore 256
CN - Cina 143
BR - Brasile 122
VN - Vietnam 90
NL - Olanda 75
HK - Hong Kong 67
FR - Francia 51
DE - Germania 32
GB - Regno Unito 32
BD - Bangladesh 26
CA - Canada 20
FI - Finlandia 16
IN - India 14
JP - Giappone 13
PL - Polonia 12
AR - Argentina 11
ES - Italia 10
KR - Corea 10
MX - Messico 9
SE - Svezia 9
TR - Turchia 9
CO - Colombia 8
EC - Ecuador 7
EG - Egitto 6
ID - Indonesia 5
IQ - Iraq 5
JM - Giamaica 5
PH - Filippine 5
AU - Australia 4
SA - Arabia Saudita 4
UA - Ucraina 4
ZA - Sudafrica 4
MA - Marocco 3
PE - Perù 3
PK - Pakistan 3
RU - Federazione Russa 3
TN - Tunisia 3
BE - Belgio 2
CZ - Repubblica Ceca 2
LT - Lituania 2
PY - Paraguay 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
UY - Uruguay 2
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
AG - Antigua e Barbuda 1
AL - Albania 1
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BG - Bulgaria 1
BO - Bolivia 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GR - Grecia 1
GT - Guatemala 1
HR - Croazia 1
HU - Ungheria 1
IE - Irlanda 1
IL - Israele 1
JO - Giordania 1
KZ - Kazakistan 1
LB - Libano 1
LK - Sri Lanka 1
PA - Panama 1
PR - Porto Rico 1
RO - Romania 1
SK - Slovacchia (Repubblica Slovacca) 1
TW - Taiwan 1
UZ - Uzbekistan 1
Totale 2.003
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Città #
Singapore 160
Santa Clara 125
San Jose 97
Hong Kong 63
Ashburn 48
Beijing 41
Los Angeles 34
Lauterbourg 30
Ho Chi Minh City 29
Rome 29
Hefei 26
Milan 25
Hanoi 23
Dallas 16
São Paulo 16
New York 15
Bologna 13
Council Bluffs 12
Düsseldorf 11
Frankfurt am Main 11
Guangzhou 11
Seoul 10
Tokyo 10
Palermo 9
Stockholm 9
Naples 8
Lappeenranta 7
Orem 7
Trento 7
Da Nang 6
Helsinki 6
London 6
Buffalo 5
Cairo 5
Curitiba 5
Houston 5
Monopoli 5
Munich 5
Rio de Janeiro 5
Wroclaw 5
Atlanta 4
Cagliari 4
Charlotte 4
Chennai 4
Genoa 4
Mexico City 4
Montreal 4
Quito 4
Warsaw 4
Ankara 3
Baghdad 3
Barcelona 3
Bexley 3
Birmingham 3
Brooklyn 3
Cesena 3
Chicago 3
Hyderabad 3
Hải Dương 3
Johannesburg 3
Joinville 3
Natal 3
Padua 3
Phoenix 3
Pomigliano d'Arco 3
Portsmouth 3
Riyadh 3
The Bronx 3
Toronto 3
Turin 3
Turku 3
Alessandria 2
Andria 2
Belo Horizonte 2
Bengaluru 2
Biên Hòa 2
Blumenau 2
Bogotá 2
Brasília 2
Brussels 2
Buenos Aires 2
Casalnuovo di Napoli 2
Castel Goffredo 2
Catania 2
Caxias do Sul 2
Changzhou 2
Cincinnati 2
Colombo 2
Dagenham 2
Douglasville 2
Ennis 2
Erbil 2
Favignana 2
Florence 2
Georgetown 2
Goiânia 2
Guayaquil 2
Houma 2
Istanbul 2
Jacksonville 2
Totale 1.120
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Nome #
MANUALE DEL SISTEMA DI GESTIONE DELLA QUALITA' APPLICATO AL CENTRO DI RICERCA E DIAGNOSI DI MALATTIE DA ACCUMULO LISOSOMIALI DELL'IRIB CNR PALERMO 170
Analisi enzimatiche e genetiche nella malattia di Fabry: linee guida per la diagnosi. 111
Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients 96
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease? 84
Minimize error in the evaluation of enzymatic activity 83
Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease 83
The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson–Fabry Disease: A Clinical and Molecular Study 82
Identification of Four New Mutations in the GLA Gene Associated with Anderson–Fabry Disease 78
Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case 76
Pompe disease: pathogenesis, molecular genetics and diagnosis 76
Identification of Novel Mutations in Patients Affected by Gaucher Disease 74
Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex 74
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis 73
Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study 70
Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area 68
Calnexin is down-regulated in Fabry disease. A possible implication in protein misfolding 67
Valutazione dell'efficienza dei DBS 66
Up-regulation of gamma-enolase in PMC from Fabry patients 59
European Biotech week 59
Fabry disease, a complex pathology not easy to diagnose 57
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings. 55
Analisi dei MicroRNA in pazienti con diagnosi di malattia di Fabry. 54
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings 52
IL SISTEMA QUALITÀ SECONDO LA NORMA INTERNAZIONALE UNI EN ISO 9001 APPLICATO AL CENTRO DI RICERCA ED ACCUMULO DI MALATTIE DA ACCUMULO LISOSOMIALE CNR-IRIB PALERMO 48
Fabry disease: a proteomic approach 45
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease 44
Proteomic approach in Fabry disease: a case report 43
Genetic screening of Fabry patients with EcoTILLING and HRM technology 41
Identificazione di mutazioni nel gene ll'a-galattosidasi A attraverso PCR Real Time HRM, in soggetti sospetti Fabry. 31
Genetic screening of Fabry patients with EcoTILLING and HRM technology. 30
Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies 15
Totale 2.064
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Categoria #
all - tutte 6.240
article - articoli 3.920
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 10.160
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202411 0 0 0 0 0 0 0 0 0 0 11 0
2024/2025815 35 1 48 19 145 44 5 73 65 101 171 108
2025/20261.050 62 87 95 149 186 49 108 33 63 99 80 39
2026/2027188 76 30 82 0 0 0 0 0 0 0 0 0
Totale 2.064