IRIS
D'APICE, MARIA ROSARIA
 Distribuzione geografica
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Continente #
NA - Nord America 6.863
AS - Asia 980
EU - Europa 936
SA - Sud America 156
AF - Africa 11
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 3
Totale 8.952
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Nazione #
US - Stati Uniti d'America 6.839
SG - Singapore 545
DE - Germania 204
IT - Italia 195
CN - Cina 169
BR - Brasile 133
UA - Ucraina 95
IE - Irlanda 78
PL - Polonia 72
KR - Corea 68
HK - Hong Kong 63
VN - Vietnam 59
RU - Federazione Russa 58
FR - Francia 56
GB - Regno Unito 55
SE - Svezia 29
NL - Olanda 27
FI - Finlandia 26
CA - Canada 16
KG - Kirghizistan 16
IN - India 14
CZ - Repubblica Ceca 13
ID - Indonesia 9
AR - Argentina 8
BD - Bangladesh 8
BE - Belgio 8
CL - Cile 7
ES - Italia 6
IQ - Iraq 6
AT - Austria 5
JP - Giappone 5
MX - Messico 5
TR - Turchia 5
ZA - Sudafrica 5
LT - Lituania 4
UZ - Uzbekistan 4
AU - Australia 3
KE - Kenya 3
EU - Europa 2
IL - Israele 2
IR - Iran 2
PY - Paraguay 2
SA - Arabia Saudita 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AE - Emirati Arabi Uniti 1
AL - Albania 1
AO - Angola 1
AZ - Azerbaigian 1
BO - Bolivia 1
CO - Colombia 1
DK - Danimarca 1
EC - Ecuador 1
GD - Grenada 1
GY - Guiana 1
HR - Croazia 1
JM - Giamaica 1
KZ - Kazakistan 1
MA - Marocco 1
NI - Nicaragua 1
PT - Portogallo 1
RO - Romania 1
TN - Tunisia 1
UY - Uruguay 1
VE - Venezuela 1
Totale 8.952
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Città #
Wilmington 1.776
Woodbridge 1.735
Houston 1.513
Fairfield 252
Singapore 206
Chandler 182
Ashburn 161
Ann Arbor 153
Seattle 97
Cambridge 89
New York 74
Rome 72
Dublin 66
Hong Kong 63
Beijing 60
Kraków 60
Jacksonville 59
Medford 51
Dearborn 48
Santa Clara 36
Munich 26
Lawrence 23
Los Angeles 23
Dallas 22
Dong Ket 21
The Dalles 20
Buffalo 18
Zhengzhou 17
Ho Chi Minh City 14
Boardman 13
Brno 13
São Paulo 13
Milan 12
Moscow 11
Nuremberg 11
Palo Alto 11
Warsaw 11
Menlo Park 10
Nanjing 9
Center 8
Council Bluffs 8
Wuhan 8
Chennai 7
Hanoi 7
Helsinki 7
Nürnberg 7
San Diego 7
Stockholm 7
Chicago 6
Denver 6
Jakarta 6
London 6
Redwood City 6
Waanrode 6
Amsterdam 5
Berlin 5
Boston 5
Florence 5
Guangzhou 5
Johannesburg 5
Montreal 5
Mülheim 5
North Bergen 5
Norwalk 5
Toronto 5
Ankara 4
Brooklyn 4
Frankfurt am Main 4
Hefei 4
Lappeenranta 4
Latina 4
Manchester 4
Poplar 4
Redondo Beach 4
San Francisco 4
Atlanta 3
Bexley 3
Buccinasco 3
Colombo 3
Detroit 3
Dhaka 3
Falls Church 3
Genzano Di Roma 3
Hangzhou 3
Mountain View 3
Nairobi 3
Querétaro 3
Rio de Janeiro 3
Sarno 3
Seoul 3
Shanghai 3
Spoltore 3
Verona 3
Andria 2
Belo Horizonte 2
Bishkek 2
Biên Hòa 2
Brasília 2
Brisbane 2
Brussels 2
Totale 7.316
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Nome #
Gonadal mosaicism in hereditary angioedema 509
Mutational analysis of Peroxiredoxin IV: Exclusion of a positional candidate for multinodular goitre 499
Gene expression profiling of fibroblasts from a human progeroid disease mandibuloacral dysplasia, MAD #248370 through cDNA microarrays 482
3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population 471
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population 467
Targeted Next Generation Sequencing in patients with Myotonia Congenita 467
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 454
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis 452
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 446
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype 443
Rapamycin treatment of mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics 419
The etiology of acute recurrent pancreatitis in children: A challenge for pediatricians 411
Towards the pharmacogenomics of cystic fibrosis 391
Protein farnesylation and disease 383
Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: Understanding the osteolytic process triggered by altered lamins 340
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C 336
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene 279
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 218
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family 217
Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients 215
Mandibuloacral dysplasia: a premature ageing disease with aspects of physiological ageing 175
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients 169
European lipodystrophy registry: background and structure 166
Lamins and bone disorders: current understanding and perspectives 103
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles 102
From cue to meaning: the involvement of POLD1 gene in DNA replication, repair and aging 80
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype 80
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing 79
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture 76
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 65
Mitochondrial Dysfunction in Mandibular Hypoplasia, Deafness and Progeroid Features with Concomitant Lipodystrophy (Mdpl) Patients 54
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations 33
null 3
Totale 9.084
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Categoria #
all - tutte 22.730
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 22.730
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021680 0 0 0 0 0 146 189 197 25 41 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
2025/2026668 115 84 155 148 130 36 0 0 0 0 0 0
Totale 9.084