IRIS
D'APICE, MARIA ROSARIA
 Distribuzione geografica
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Continente #
NA - Nord America 7.685
AS - Asia 1.219
EU - Europa 1.156
SA - Sud America 170
Continente sconosciuto - Info sul continente non disponibili 143
AF - Africa 13
OC - Oceania 3
Totale 10.389
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Nazione #
US - Stati Uniti d'America 7.619
SG - Singapore 622
IT - Italia 274
DE - Germania 210
CN - Cina 195
BR - Brasile 136
RU - Federazione Russa 126
VN - Vietnam 101
UA - Ucraina 96
IE - Irlanda 79
FR - Francia 77
PL - Polonia 73
KR - Corea 68
HK - Hong Kong 67
GB - Regno Unito 63
BD - Bangladesh 47
SE - Svezia 40
NL - Olanda 35
CA - Canada 34
FI - Finlandia 29
JP - Giappone 26
IN - India 21
KG - Kirghizistan 16
CZ - Repubblica Ceca 13
ES - Italia 10
ID - Indonesia 10
AR - Argentina 8
BE - Belgio 8
IQ - Iraq 8
CL - Cile 6
ZA - Sudafrica 6
AT - Austria 5
LT - Lituania 5
MX - Messico 5
TR - Turchia 5
UZ - Uzbekistan 5
CO - Colombia 4
CR - Costa Rica 4
EC - Ecuador 4
IL - Israele 4
JM - Giamaica 4
NP - Nepal 4
SV - El Salvador 4
VE - Venezuela 4
AL - Albania 3
AU - Australia 3
PK - Pakistan 3
SA - Arabia Saudita 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
BO - Bolivia 2
BY - Bielorussia 2
EU - Europa 2
GD - Grenada 2
GP - Guadalupe 2
GT - Guatemala 2
HN - Honduras 2
IR - Iran 2
JO - Giordania 2
KE - Kenya 2
MY - Malesia 2
NI - Nicaragua 2
PH - Filippine 2
PR - Porto Rico 2
PY - Paraguay 2
RO - Romania 2
TN - Tunisia 2
TT - Trinidad e Tobago 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AO - Angola 1
AZ - Azerbaigian 1
BB - Barbados 1
BG - Bulgaria 1
CH - Svizzera 1
DK - Danimarca 1
GY - Guiana 1
HR - Croazia 1
KZ - Kazakistan 1
MA - Marocco 1
MD - Moldavia 1
NG - Nigeria 1
PS - Palestinian Territory 1
PT - Portogallo 1
TH - Thailandia 1
Totale 10.249
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Città #
Wilmington 1.777
Woodbridge 1.735
Houston 1.517
Ashburn 284
Singapore 274
Fairfield 252
Chandler 182
Ann Arbor 153
San Jose 140
Seattle 99
Cambridge 91
New York 83
Rome 80
Dublin 67
Hong Kong 66
Beijing 63
Kraków 60
Jacksonville 59
Medford 51
Council Bluffs 50
Dearborn 48
Los Angeles 44
Santa Clara 40
The Dalles 28
Dallas 25
Ho Chi Minh City 25
Lawrence 23
Munich 23
Buffalo 22
Tokyo 22
Dong Ket 21
North Bergen 19
Lauterbourg 18
Zhengzhou 17
Chicago 15
Hanoi 15
Milan 15
São Paulo 15
Moscow 14
Boardman 13
Brno 12
Denver 12
Montreal 12
Nuremberg 12
Phoenix 12
Warsaw 12
Helsinki 11
Palo Alto 11
Menlo Park 10
Nanjing 10
Wuhan 9
Center 8
Orem 8
San Diego 8
Amsterdam 7
Atlanta 7
Chennai 7
Frankfurt am Main 7
Manchester 7
Nürnberg 7
Boston 6
Brooklyn 6
Florence 6
Guangzhou 6
Jakarta 6
Johannesburg 6
Redwood City 6
Stockholm 6
Toronto 6
Waanrode 6
Berlin 5
London 5
Mülheim 5
Norwalk 5
Piscataway 5
Ankara 4
Catania 4
City of London 4
Detroit 4
Haiphong 4
Hefei 4
Kingston 4
Latina 4
Philadelphia 4
Poplar 4
Redondo Beach 4
San Francisco 4
San Salvador 4
Shanghai 4
Baghdad 3
Bexley 3
Bossier City 3
Buccinasco 3
Chula Vista 3
Colombo 3
Decatur 3
Dhaka 3
Falls Church 3
Genoa 3
Genzano Di Roma 3
Totale 7.908
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Nome #
Gonadal mosaicism in hereditary angioedema 540
Gene expression profiling of fibroblasts from a human progeroid disease mandibuloacral dysplasia, MAD #248370 through cDNA microarrays 525
Mutational analysis of Peroxiredoxin IV: Exclusion of a positional candidate for multinodular goitre 523
3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population 507
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population 502
null 492
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 486
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype 483
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 483
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis 476
Rapamycin treatment of mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics 446
The etiology of acute recurrent pancreatitis in children: A challenge for pediatricians 438
Towards the pharmacogenomics of cystic fibrosis 419
Protein farnesylation and disease 407
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C 382
Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: Understanding the osteolytic process triggered by altered lamins 371
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene 352
Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients 259
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family 252
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 249
European lipodystrophy registry: background and structure 216
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients 214
Mandibuloacral dysplasia: a premature ageing disease with aspects of physiological ageing 212
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing 149
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles 149
Lamins and bone disorders: current understanding and perspectives 135
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture 135
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 130
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype 120
Mitochondrial Dysfunction in Mandibular Hypoplasia, Deafness and Progeroid Features with Concomitant Lipodystrophy (Mdpl) Patients 84
Epidemiological and clinical data from the European Lipodystrophy Registry 71
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations 55
An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic 39
From cue to meaning: the involvement of POLD1 gene in DNA replication, repair and aging 35
The Senolytic Effect of Indole-3-Carbinol (I3C) on Mouse Embryonic (MEF) and Human Fibroblast Cell Lines 25
Targeted Next Generation Sequencing in patients with Myotonia Congenita 23
Longitudinal Multimodal Assessment of Structure and Function in INPP5E-Related Retinopathy 5
Totale 10.389
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Categoria #
all - tutte 27.016
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 27.016
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022214 0 0 0 0 7 28 14 10 28 31 17 79
2022/2023405 32 42 28 44 32 81 50 17 38 1 24 16
2023/2024223 30 13 13 4 22 70 8 14 2 1 5 41
2024/2025956 31 209 90 67 26 27 54 33 119 57 146 97
2025/20261.389 112 73 147 146 126 41 172 140 130 148 102 52
2026/2027636 90 109 222 214 1 0 0 0 0 0 0 0
Totale 10.389