IRIS
D'APICE, MARIA ROSARIA
 Distribuzione geografica
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Continente #
NA - Nord America 7.096
AS - Asia 1.195
EU - Europa 1.088
SA - Sud America 167
AF - Africa 14
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 3
Totale 9.566
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Nazione #
US - Stati Uniti d'America 7.066
SG - Singapore 636
IT - Italia 218
DE - Germania 213
CN - Cina 191
BR - Brasile 138
RU - Federazione Russa 128
VN - Vietnam 105
UA - Ucraina 95
IE - Irlanda 79
FR - Francia 76
PL - Polonia 73
KR - Corea 68
HK - Hong Kong 67
GB - Regno Unito 59
SE - Svezia 34
NL - Olanda 33
FI - Finlandia 30
JP - Giappone 25
IN - India 21
CA - Canada 18
KG - Kirghizistan 16
BD - Bangladesh 14
CZ - Repubblica Ceca 13
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
KE - Kenya 3
PK - Pakistan 3
SA - Arabia Saudita 3
AE - Emirati Arabi Uniti 2
BO - Bolivia 2
BY - Bielorussia 2
EU - Europa 2
IL - Israele 2
IR - Iran 2
JM - Giamaica 2
JO - Giordania 2
MY - Malesia 2
NP - Nepal 2
PH - Filippine 2
PY - Paraguay 2
RO - Romania 2
TN - Tunisia 2
UY - Uruguay 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
EC - Ecuador 1
GD - Grenada 1
GP - Guadalupe 1
GY - Guiana 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 9.566
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Città #
Wilmington 1.776
Woodbridge 1.735
Houston 1.515
Singapore 283
Fairfield 252
Ashburn 194
Chandler 182
Ann Arbor 153
San Jose 103
Seattle 97
Cambridge 90
New York 76
Rome 75
Dublin 67
Hong Kong 67
Beijing 61
Kraków 60
Jacksonville 59
Medford 51
Dearborn 48
Santa Clara 37
Ho Chi Minh City 30
The Dalles 29
Los Angeles 27
Munich 26
Dallas 24
Lawrence 23
Dong Ket 21
Tokyo 21
Buffalo 19
Lauterbourg 18
Zhengzhou 17
Council Bluffs 15
Moscow 15
Hanoi 14
Boardman 13
Brno 13
São Paulo 13
Milan 12
Nuremberg 12
Warsaw 12
Helsinki 11
Palo Alto 11
Chicago 10
Menlo Park 10
Nanjing 10
Center 8
Wuhan 8
Amsterdam 7
Chennai 7
Frankfurt am Main 7
Manchester 7
Nürnberg 7
San Diego 7
Stockholm 7
Denver 6
Florence 6
Guangzhou 6
Jakarta 6
Johannesburg 6
London 6
North Bergen 6
Orem 6
Redwood City 6
Waanrode 6
Atlanta 5
Berlin 5
Boston 5
Montreal 5
Mülheim 5
Norwalk 5
Toronto 5
Ankara 4
Brooklyn 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
Detroit 3
Dhaka 3
Falls Church 3
Genzano Di Roma 3
Hangzhou 3
Madrid 3
Mountain View 3
Mumbai 3
Nairobi 3
Querétaro 3
Rio de Janeiro 3
Riyadh 3
Sacramento 3
Salvador 3
Sarno 3
Totale 7.660
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Nome #
Gonadal mosaicism in hereditary angioedema 528
Mutational analysis of Peroxiredoxin IV: Exclusion of a positional candidate for multinodular goitre 510
Gene expression profiling of fibroblasts from a human progeroid disease mandibuloacral dysplasia, MAD #248370 through cDNA microarrays 506
null 492
3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population 486
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population 483
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 468
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype 467
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 464
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis 458
Rapamycin treatment of mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics 428
The etiology of acute recurrent pancreatitis in children: A challenge for pediatricians 427
Towards the pharmacogenomics of cystic fibrosis 404
Protein farnesylation and disease 394
Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: Understanding the osteolytic process triggered by altered lamins 352
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C 351
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene 309
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family 238
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 235
Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients 233
Mandibuloacral dysplasia: a premature ageing disease with aspects of physiological ageing 194
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients 194
European lipodystrophy registry: background and structure 190
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles 131
Lamins and bone disorders: current understanding and perspectives 118
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing 115
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture 103
From cue to meaning: the involvement of POLD1 gene in DNA replication, repair and aging 101
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype 98
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 88
Mitochondrial Dysfunction in Mandibular Hypoplasia, Deafness and Progeroid Features with Concomitant Lipodystrophy (Mdpl) Patients 66
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations 42
Epidemiological and clinical data from the European Lipodystrophy Registry 20
Targeted Next Generation Sequencing in patients with Myotonia Congenita 5
null 3
Totale 9.701
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Categoria #
all - tutte 23.900
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 23.900
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202182 0 0 0 0 0 0 0 0 0 0 41 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
2025/20261.285 115 84 155 148 130 42 178 147 135 150 1 0
Totale 9.701