IRIS
D'APICE, MARIA ROSARIA
 Distribuzione geografica
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Continente #
NA - Nord America 7.172
AS - Asia 1.229
EU - Europa 1.118
SA - Sud America 169
AF - Africa 14
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 3
Totale 9.708
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Nazione #
US - Stati Uniti d'America 7.135
SG - Singapore 638
IT - Italia 244
DE - Germania 213
CN - Cina 195
BR - Brasile 138
RU - Federazione Russa 128
VN - Vietnam 106
UA - Ucraina 95
IE - Irlanda 79
FR - Francia 77
PL - Polonia 73
HK - Hong Kong 68
KR - Corea 68
GB - Regno Unito 59
BD - Bangladesh 39
NL - Olanda 35
SE - Svezia 34
FI - Finlandia 30
JP - Giappone 25
CA - Canada 23
IN - India 21
KG - Kirghizistan 16
CZ - Repubblica Ceca 14
ES - Italia 10
ID - Indonesia 10
AR - Argentina 9
BE - Belgio 8
IQ - Iraq 8
CL - Cile 7
TR - Turchia 6
ZA - Sudafrica 6
AT - Austria 5
MX - Messico 5
UZ - Uzbekistan 5
LT - Lituania 4
VE - Venezuela 4
AU - Australia 3
JM - Giamaica 3
KE - Kenya 3
NP - Nepal 3
PK - Pakistan 3
SA - Arabia Saudita 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
BO - Bolivia 2
BY - Bielorussia 2
EC - Ecuador 2
EU - Europa 2
IL - Israele 2
IR - Iran 2
JO - Giordania 2
MY - Malesia 2
PH - Filippine 2
PY - Paraguay 2
RO - Romania 2
TN - Tunisia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
AO - Angola 1
AZ - Azerbaigian 1
BG - Bulgaria 1
CO - Colombia 1
DK - Danimarca 1
GD - Grenada 1
GP - Guadalupe 1
GY - Guiana 1
HN - Honduras 1
HR - Croazia 1
KZ - Kazakistan 1
MA - Marocco 1
MD - Moldavia 1
NG - Nigeria 1
NI - Nicaragua 1
PS - Palestinian Territory 1
PT - Portogallo 1
SV - El Salvador 1
TT - Trinidad e Tobago 1
Totale 9.708
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Città #
Wilmington 1.776
Woodbridge 1.735
Houston 1.515
Singapore 283
Fairfield 252
Ashburn 198
Chandler 182
Ann Arbor 153
San Jose 108
Seattle 98
Cambridge 90
New York 82
Rome 79
Hong Kong 68
Dublin 67
Beijing 61
Kraków 60
Jacksonville 59
Medford 51
Dearborn 48
Santa Clara 38
Ho Chi Minh City 30
Los Angeles 29
The Dalles 29
Munich 26
Dallas 25
Lawrence 23
Council Bluffs 22
Buffalo 21
Dong Ket 21
Tokyo 21
Lauterbourg 18
Zhengzhou 17
Hanoi 15
Moscow 15
Milan 14
Boardman 13
Brno 13
São Paulo 13
Nuremberg 12
Warsaw 12
Chicago 11
Helsinki 11
Palo Alto 11
Menlo Park 10
Nanjing 10
Wuhan 9
Center 8
Orem 8
San Diego 8
Amsterdam 7
Chennai 7
Frankfurt am Main 7
Manchester 7
Montreal 7
Nürnberg 7
Stockholm 7
Denver 6
Florence 6
Guangzhou 6
Jakarta 6
Johannesburg 6
London 6
North Bergen 6
Redwood City 6
Waanrode 6
Atlanta 5
Berlin 5
Boston 5
Mülheim 5
Norwalk 5
Toronto 5
Ankara 4
Brooklyn 4
Catania 4
Detroit 4
Haiphong 4
Hefei 4
Lappeenranta 4
Latina 4
Poplar 4
Redondo Beach 4
San Francisco 4
Baghdad 3
Bexley 3
Buccinasco 3
Colombo 3
Dhaka 3
Falls Church 3
Genzano Di Roma 3
Hangzhou 3
Kingston 3
Madrid 3
Mountain View 3
Mumbai 3
Nairobi 3
Phoenix 3
Querétaro 3
Rio de Janeiro 3
Riyadh 3
Totale 7.706
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Nome #
Gonadal mosaicism in hereditary angioedema 529
Mutational analysis of Peroxiredoxin IV: Exclusion of a positional candidate for multinodular goitre 512
Gene expression profiling of fibroblasts from a human progeroid disease mandibuloacral dysplasia, MAD #248370 through cDNA microarrays 511
null 492
3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population 487
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population 484
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 470
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis 470
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype 468
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 464
Rapamycin treatment of mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics 432
The etiology of acute recurrent pancreatitis in children: A challenge for pediatricians 428
Towards the pharmacogenomics of cystic fibrosis 404
Protein farnesylation and disease 397
Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: Understanding the osteolytic process triggered by altered lamins 354
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C 352
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene 312
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family 242
Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients 241
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene 237
European lipodystrophy registry: background and structure 197
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients 197
Mandibuloacral dysplasia: a premature ageing disease with aspects of physiological ageing 196
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles 132
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing 124
Lamins and bone disorders: current understanding and perspectives 119
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture 117
From cue to meaning: the involvement of POLD1 gene in DNA replication, repair and aging 102
In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array 100
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype 100
Mitochondrial Dysfunction in Mandibular Hypoplasia, Deafness and Progeroid Features with Concomitant Lipodystrophy (Mdpl) Patients 67
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations 44
Epidemiological and clinical data from the European Lipodystrophy Registry 31
From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging 13
An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic 12
Targeted Next Generation Sequencing in patients with Myotonia Congenita 9
The Senolytic Effect of Indole-3-Carbinol (I3C) on Mouse Embryonic (MEF) and Human Fibroblast Cell Lines 6
Totale 9.852
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Categoria #
all - tutte 24.969
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 24.969
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202141 0 0 0 0 0 0 0 0 0 0 0 41
2021/2022291 25 33 5 14 7 28 14 10 28 31 17 79
2022/2023408 32 42 28 44 32 81 50 17 38 1 27 16
2023/2024233 31 13 15 4 24 70 8 17 2 1 5 43
2024/2025995 32 212 92 72 27 27 56 46 125 58 151 97
2025/20261.436 115 84 155 148 130 42 178 147 135 150 103 49
Totale 9.852