IRIS
D'APICE, MARIA ROSARIA
 Distribuzione geografica
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Continente #
NA - Nord America 6.562
EU - Europa 774
AS - Asia 403
SA - Sud America 7
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 1
Totale 7.750
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Nazione #
US - Stati Uniti d'America 6.557
DE - Germania 177
SG - Singapore 169
IT - Italia 147
CN - Cina 111
UA - Ucraina 92
IE - Irlanda 78
KR - Corea 68
PL - Polonia 60
RU - Federazione Russa 54
FR - Francia 50
GB - Regno Unito 36
FI - Finlandia 22
SE - Svezia 22
VN - Vietnam 21
KG - Kirghizistan 15
CZ - Repubblica Ceca 13
NL - Olanda 10
BE - Belgio 8
CA - Canada 5
CL - Cile 5
ID - Indonesia 5
IN - India 4
UZ - Uzbekistan 3
AT - Austria 2
BR - Brasile 2
EU - Europa 2
IR - Iran 2
JP - Giappone 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AL - Albania 1
AU - Australia 1
BD - Bangladesh 1
KZ - Kazakistan 1
PT - Portogallo 1
RO - Romania 1
SA - Arabia Saudita 1
Totale 7.750
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Città #
Wilmington 1.775
Woodbridge 1.735
Houston 1.509
Fairfield 252
Chandler 182
Ann Arbor 153
Singapore 152
Ashburn 112
Seattle 96
Cambridge 89
Dublin 66
New York 63
Kraków 60
Jacksonville 59
Rome 59
Medford 51
Dearborn 48
Santa Clara 33
Lawrence 23
Beijing 22
Dong Ket 21
Zhengzhou 17
Munich 15
Brno 13
Boardman 12
Milan 12
Moscow 11
Palo Alto 11
Menlo Park 10
Nanjing 9
Center 8
Wuhan 8
Nürnberg 7
San Diego 7
Redwood City 6
Waanrode 6
Berlin 5
Guangzhou 5
Helsinki 5
Jakarta 5
London 5
Mülheim 5
Norwalk 5
Hefei 4
Latina 4
Council Bluffs 3
Detroit 3
Falls Church 3
Genzano Di Roma 3
Hangzhou 3
Mountain View 3
Sarno 3
Seoul 3
Shanghai 3
Toronto 3
Verona 3
Amsterdam 2
Brussels 2
Chongqing 2
Engelhard 2
Florence 2
Frankfurt am Main 2
Genoa 2
Jinan 2
Kunming 2
Lappeenranta 2
Leawood 2
Los Angeles 2
Nonantola 2
Nuremberg 2
Ottawa 2
San Mateo 2
Tianjin 2
Udine 2
Abbiategrasso 1
Almaty 1
Augusta 1
Bari 1
Bishkek 1
Boydton 1
Changchun 1
Chaoyang 1
Chiswick 1
Costa Mesa 1
Den Haag 1
Dhaka 1
Durham 1
Fukuoka 1
Giavera del Montello 1
Graz 1
Harbin 1
Hebei 1
Hounslow 1
Hyderabad 1
Kilburn 1
Lisbon 1
Mumbai 1
Nanchang 1
New Delhi 1
Orange 1
Totale 6.850
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Nome #
Gonadal mosaicism in hereditary angioedema 478
Mutational analysis of Peroxiredoxin IV: Exclusion of a positional candidate for multinodular goitre 474
Gene expression profiling of fibroblasts from a human progeroid disease mandibuloacral dysplasia, MAD #248370 through cDNA microarrays 447
Targeted Next Generation Sequencing in patients with Myotonia Congenita 442
3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population 435
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis 434
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy 425
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population 423
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype 407
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 406
Rapamycin treatment of mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics 392
The etiology of acute recurrent pancreatitis in children: A challenge for pediatricians 392
Protein farnesylation and disease 374
Towards the pharmacogenomics of cystic fibrosis 370
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C 315
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene 243
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 187
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family 183
Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients 165
Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: Understanding the osteolytic process triggered by altered lamins 157
Mandibuloacral dysplasia: a premature ageing disease with aspects of physiological ageing 144
European lipodystrophy registry: background and structure 128
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients 124
Lamins and bone disorders: current understanding and perspectives 71
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles 49
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype 43
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture 35
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing 34
Mitochondrial Dysfunction in Mandibular Hypoplasia, Deafness and Progeroid Features with Concomitant Lipodystrophy (Mdpl) Patients 32
From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging 25
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 17
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations 13
null 3
Totale 7.867
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Categoria #
all - tutte 17.901
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 17.901
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.213 0 0 0 0 0 177 192 159 157 224 156 148
2020/20211.560 152 197 141 215 175 146 189 197 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
2024/2025446 32 212 92 72 27 11 0 0 0 0 0 0
Totale 7.867