IRIS
CASCELLA, RAFFAELLA
 Distribuzione geografica
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Continente #
NA - Nord America 6.794
AS - Asia 1.164
EU - Europa 893
SA - Sud America 224
AF - Africa 25
Continente sconosciuto - Info sul continente non disponibili 7
OC - Oceania 1
Totale 9.108
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Nazione #
US - Stati Uniti d'America 6.752
SG - Singapore 588
CN - Cina 232
IT - Italia 208
BR - Brasile 196
IE - Irlanda 136
HK - Hong Kong 130
DE - Germania 106
VN - Vietnam 80
GB - Regno Unito 69
RU - Federazione Russa 68
SE - Svezia 58
FR - Francia 56
UA - Ucraina 43
PL - Polonia 36
FI - Finlandia 32
CA - Canada 23
KG - Kirghizistan 21
IN - India 20
NL - Olanda 18
AT - Austria 16
BD - Bangladesh 16
KR - Corea 16
MX - Messico 15
UZ - Uzbekistan 12
CZ - Repubblica Ceca 11
TR - Turchia 10
AR - Argentina 9
ID - Indonesia 9
BE - Belgio 8
ES - Italia 8
JP - Giappone 8
ZA - Sudafrica 7
EG - Egitto 6
MA - Marocco 6
PY - Paraguay 6
RO - Romania 6
EU - Europa 5
IL - Israele 4
LT - Lituania 4
AZ - Azerbaigian 3
CL - Cile 3
DZ - Algeria 3
EC - Ecuador 3
JO - Giordania 3
A2 - ???statistics.table.value.countryCode.A2??? 2
BG - Bulgaria 2
CO - Colombia 2
IQ - Iraq 2
IR - Iran 2
PE - Perù 2
SA - Arabia Saudita 2
VE - Venezuela 2
AL - Albania 1
AM - Armenia 1
AU - Australia 1
BO - Bolivia 1
CH - Svizzera 1
DJ - Gibuti 1
DK - Danimarca 1
DM - Dominica 1
DO - Repubblica Dominicana 1
GE - Georgia 1
GR - Grecia 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
KE - Kenya 1
LV - Lettonia 1
MK - Macedonia 1
NO - Norvegia 1
PH - Filippine 1
PK - Pakistan 1
PS - Palestinian Territory 1
QA - Qatar 1
TN - Tunisia 1
Totale 9.108
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Città #
Wilmington 1.919
Houston 1.474
Woodbridge 856
Fairfield 301
Singapore 299
Chandler 269
Ashburn 227
Beijing 144
Seattle 134
Hong Kong 130
Ann Arbor 128
Cambridge 111
Dublin 102
Los Angeles 87
Medford 87
New York 80
Rome 72
The Dalles 62
Chicago 59
Buffalo 48
Dearborn 42
Lawrence 38
Santa Clara 38
Dallas 33
Ho Chi Minh City 29
Munich 28
Council Bluffs 27
Kraków 24
Jacksonville 22
São Paulo 22
Salt Lake City 21
San Diego 21
Moscow 16
Redondo Beach 16
Nuremberg 15
Frankfurt am Main 14
Elk Grove Village 13
Palo Alto 13
Atlanta 12
Boardman 12
Seoul 12
Stockholm 12
London 11
Milan 11
Helsinki 10
Lancaster 10
Phoenix 10
Warsaw 10
Brno 9
Hanoi 9
Menlo Park 9
Mexico City 9
Norwalk 9
Toronto 9
Chennai 8
Denver 8
Lappeenranta 8
Nanjing 8
Orem 8
Tampa 8
Belo Horizonte 7
Boston 7
Brasília 7
Brussels 7
Jakarta 7
Rio de Janeiro 7
San Francisco 7
Tokyo 7
Turku 7
Ankara 6
Brooklyn 6
Cairo 6
Latiano 6
Sterling 6
Columbus 5
Dhaka 5
Johannesburg 5
Montreal 5
Vienna 5
Bexley 4
Detroit 4
Guangzhou 4
Hefei 4
Juneau 4
Kansas City 4
Mumbai 4
Nagold 4
Poplar 4
Porto Alegre 4
Querétaro 4
Recife 4
Redwood City 4
San Jose 4
Zhengzhou 4
Amman 3
Asunción 3
Baku 3
Curitiba 3
Dong Ket 3
Falkenstein 3
Totale 7.429
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Nome #
Application of precision medicine in neurodegenerative diseases 518
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 446
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing 428
FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation 426
Pharmacogenomics of multifactorial diseases: A focus on psoriatic arthritis 425
Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry 414
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 394
Expression and potential role of cellular retinol binding protein I in psoriasis 371
Digenic inheritance of shortened repeat units of the D4Z4 region and a loss-of-function variant in SMCHD1 in a Family with FSHD 328
Biomolecular index of therapeutic efficacy in psoriasis treated by anti-TNF alpha agents. 311
KIF3A and IL-4 are disease-specific biomarkers for psoriatic arthritis susceptibility 311
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis 287
Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations. 285
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era. 271
The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A. 261
Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: Significant association of twelve variants 241
Doyne honeycomb retinal dystrophy - functional improvement following subthreshold nanopulse laser treatment: a case report. 237
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report. 226
Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations 225
Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis 215
The Variability of SMCHD1 Gene in FSHD Patients: Evidence of New Mutations 209
Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa 190
Ngs analysis for molecular diagnosis of Retinitis Pigmentosa (RP): Detection of a novel variant in PRPH2 gene 186
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications 144
A Novel Smad7 Genetic Variant Mapping on the Genomic Region Targeted by Mongersen Is Associated with Crohn's Disease 134
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions 100
Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes 94
Characterization of a natural variant of human NDP52 and its functional consequences on mitophagy 93
Genetic counseling and NGS screening for recessive LGMD2A families 88
Gender and complex diseases: Insights into sex-specific epigenetic|Genere e malattie complesse: Meccanismi epigenetici sesso-specifici 81
Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: a study on 4266 samples 81
Case report: Sars-CoV-2 infection in a vaccinated individual: evaluation of the immunological profile and virus transmission risk 79
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients 77
Epigenomic signatures in age-related macular degeneration: Focus on their role as disease modifiers and therapeutic targets 65
Genetic determinants highlight the existence of shared etiopathogenetic mechanisms characterizing age-related macular degeneration and neurodegenerative disorders 62
Genetic counselling improves the molecular characterisation of dementing disorders 53
Multi-layer picture of neurodegenerative diseases: lessons from the use of big data through artificial intelligence 50
Deciphering the complexity of FSHD: a multimodal approach as a model for rare disorders 46
A Hybrid Machine Learning and Network Analysis Approach Reveals Two Parkinson?s Disease Subtypes from 115 RNA-Seq Post-Mortem Brain Samples 46
Shared (epi)genomic background connecting neurodegenerative diseases and type 2 diabetes 46
Relationship between nutrition, lifestyle, and neurodegenerative disease: lessons from ADH1B, CYP1A2 and MTHFR 45
Pharmacogenomics: an update on biologics and small-molecule drugs in the treatment of psoriasis 43
RHO variants and autosomal dominant retinitis pigmentosa: insights from the italian genetic landscape 43
RNAseq-based prioritization revealed COL6A5, COL8A1, COL10A1 and MIR146A as common and differential susceptibility biomarkers for psoriasis and psoriatic arthritis: confirmation from genotyping analysis of 1417 Italian subjects 43
Innovations in medicine: exploring ChatGPT's impact on rare disorder management 42
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families 41
Identification of genetic networks reveals complex associations and risk trajectory linking mild cognitive impairment to Alzheimer's disease 41
Longitudinal Structure Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling 41
Deregulation of ncRNA in Neurodegenerative Disease: Focus on circRNA, lncRNA and miRNA in Amyotrophic Lateral Sclerosis 41
Investigation of genetic variations of IL6 and IL6R as potential prognostic and pharmacogenetics biomarkers: implications for COVID-19 and neuroinflammatory disorders 41
Update on the molecular aspects and methods underlying the complex architecture of FSHD 40
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy 40
Age and sex modulate sars-cov-2 viral load kinetics: a longitudinal analysis of 1735 subjects 38
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD 38
Epigenetic profiling of the D4Z4 locus: optimization of the protocol for studying DNA methylation at single CpG site level 37
Analysis of genetic variants associated with COVID-19 outcome highlights different distributions among populations 36
D4Z4 methylation levels combined with a machine learning pipeline highlight single CpG sites as discriminating biomarkers for FSHD patients 34
Tracking the initial diffusion of SARS-CoV-2 Omicron variant in Italy by RT-PCR and comparison with Alpha and Delta variants spreading 34
Precision medicine into clinical practice: a web-based tool enables real?time pharmacogenetic assessment of tailored treatments in psychiatric disorders 34
Investigation of genetic variations of il6 and il6r as potential prognostic and pharmacogenetics biomarkers: Implications for covid19 and neuroin ammatory disorders 33
NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs 33
Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series 31
Totale 9.393
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Categoria #
all - tutte 28.570
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 28.570
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021791 0 0 0 0 0 173 195 222 40 99 41 21
2021/2022536 17 29 78 57 21 55 24 29 34 42 37 113
2022/2023566 47 67 8 84 58 126 45 42 58 1 16 14
2023/2024241 41 3 7 11 21 72 16 7 6 8 1 48
2024/20251.397 36 181 80 73 18 80 128 73 207 290 124 107
2025/20261.228 214 125 333 246 235 75 0 0 0 0 0 0
Totale 9.393