IRIS
CASCELLA, RAFFAELLA
 Distribuzione geografica
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Continente #
NA - Nord America 8.300
AS - Asia 1.679
EU - Europa 1.274
Continente sconosciuto - Info sul continente non disponibili 301
SA - Sud America 261
AF - Africa 35
OC - Oceania 2
Totale 11.852
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Nazione #
US - Stati Uniti d'America 8.196
SG - Singapore 752
IT - Italia 340
CN - Cina 302
BR - Brasile 222
RU - Federazione Russa 213
VN - Vietnam 181
HK - Hong Kong 141
IE - Irlanda 137
DE - Germania 109
FR - Francia 99
BD - Bangladesh 94
GB - Regno Unito 85
SE - Svezia 65
CA - Canada 54
JP - Giappone 50
UA - Ucraina 46
FI - Finlandia 39
PL - Polonia 39
IN - India 31
NL - Olanda 26
KG - Kirghizistan 22
KR - Corea 17
AT - Austria 16
MX - Messico 16
TR - Turchia 14
UZ - Uzbekistan 13
CZ - Repubblica Ceca 12
AR - Argentina 11
ES - Italia 11
ID - Indonesia 11
JM - Giamaica 9
BE - Belgio 8
EG - Egitto 8
IQ - Iraq 8
MA - Marocco 8
ZA - Sudafrica 8
CO - Colombia 7
PY - Paraguay 6
RO - Romania 6
CL - Cile 5
EC - Ecuador 5
EU - Europa 5
PK - Pakistan 5
CR - Costa Rica 4
DZ - Algeria 4
IL - Israele 4
JO - Giordania 4
LT - Lituania 4
SA - Arabia Saudita 4
TT - Trinidad e Tobago 4
AZ - Azerbaigian 3
GP - Guadalupe 3
IR - Iran 3
MY - Malesia 3
NI - Nicaragua 3
PS - Palestinian Territory 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AL - Albania 2
AU - Australia 2
BB - Barbados 2
BG - Bulgaria 2
BH - Bahrain 2
DK - Danimarca 2
DO - Repubblica Dominicana 2
GE - Georgia 2
HR - Croazia 2
HU - Ungheria 2
KE - Kenya 2
NP - Nepal 2
PE - Perù 2
PH - Filippine 2
PR - Porto Rico 2
PT - Portogallo 2
TN - Tunisia 2
TW - Taiwan 2
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
BO - Bolivia 1
BZ - Belize 1
CH - Svizzera 1
DJ - Gibuti 1
DM - Dominica 1
EE - Estonia 1
GR - Grecia 1
GT - Guatemala 1
HN - Honduras 1
KH - Cambogia 1
KN - Saint Kitts e Nevis 1
LV - Lettonia 1
LY - Libia 1
MK - Macedonia 1
NG - Nigeria 1
NO - Norvegia 1
QA - Qatar 1
RS - Serbia 1
Totale 11.558
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Città #
Wilmington 1.920
Houston 1.476
Woodbridge 856
Singapore 452
Ashburn 427
Fairfield 301
San Jose 277
Chandler 269
Beijing 151
Hong Kong 140
Council Bluffs 137
Seattle 135
Ann Arbor 128
Los Angeles 115
Cambridge 111
Dublin 102
New York 99
Rome 90
Medford 87
The Dalles 74
Chicago 72
Santa Clara 66
Ho Chi Minh City 54
Buffalo 53
Dallas 52
Tokyo 48
Hanoi 44
Dearborn 42
Lawrence 38
Denver 36
Lauterbourg 35
Moscow 29
Munich 28
Milan 27
Atlanta 26
São Paulo 26
Salt Lake City 25
Kraków 24
Jacksonville 23
Phoenix 21
San Diego 21
North Bergen 19
Toronto 18
Helsinki 17
Frankfurt am Main 16
Montreal 16
Orem 16
Redondo Beach 16
Nuremberg 15
Boardman 14
London 14
Elk Grove Village 13
Palo Alto 13
Stockholm 13
Brooklyn 12
Seoul 12
Tampa 12
Chennai 11
Warsaw 11
Lancaster 10
Monte Vista 10
Brno 9
Menlo Park 9
Mexico City 9
Newark 9
Norwalk 9
San Francisco 9
Cairo 8
Da Nang 8
Lappeenranta 8
Mumbai 8
Nanjing 8
Amsterdam 7
Belo Horizonte 7
Boston 7
Brasília 7
Brussels 7
Detroit 7
Dhaka 7
Haiphong 7
Jakarta 7
Miami 7
Paris 7
Rio de Janeiro 7
Sterling 7
Turku 7
Ankara 6
Columbus 6
Johannesburg 6
Kingston 6
Latiano 6
Charlotte 5
Cleveland 5
Kansas City 5
Philadelphia 5
Porto Alegre 5
Turin 5
Vienna 5
Washington 5
Amman 4
Totale 8.681
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Nome #
Application of precision medicine in neurodegenerative diseases 558
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 482
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing 475
FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation 454
Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry 452
Pharmacogenomics of multifactorial diseases: A focus on psoriatic arthritis 451
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing 432
Expression and potential role of cellular retinol binding protein I in psoriasis 412
Digenic inheritance of shortened repeat units of the D4Z4 region and a loss-of-function variant in SMCHD1 in a Family with FSHD 362
Biomolecular index of therapeutic efficacy in psoriasis treated by anti-TNF alpha agents. 355
KIF3A and IL-4 are disease-specific biomarkers for psoriatic arthritis susceptibility 336
Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations. 326
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis 310
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era. 309
The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A. 291
Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations 281
Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: Significant association of twelve variants 278
Doyne honeycomb retinal dystrophy - functional improvement following subthreshold nanopulse laser treatment: a case report. 261
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report. 252
Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis 250
The Variability of SMCHD1 Gene in FSHD Patients: Evidence of New Mutations 236
A Novel Smad7 Genetic Variant Mapping on the Genomic Region Targeted by Mongersen Is Associated with Crohn's Disease 215
Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa 214
Ngs analysis for molecular diagnosis of Retinitis Pigmentosa (RP): Detection of a novel variant in PRPH2 gene 206
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications 193
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients 168
Overview of the molecular determinants contributing to the expression of Psoriasis and Psoriatic Arthritis phenotypes 160
Characterization of a natural variant of human NDP52 and its functional consequences on mitophagy 132
Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions 130
Gender and complex diseases: Insights into sex-specific epigenetic|Genere e malattie complesse: Meccanismi epigenetici sesso-specifici 126
Case report: Sars-CoV-2 infection in a vaccinated individual: evaluation of the immunological profile and virus transmission risk 123
Longitudinal Structure Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling 120
Comparative analysis of antigen and molecular tests for the detection of Sars-CoV-2 and related variants: a study on 4266 samples 119
Genetic counseling and NGS screening for recessive LGMD2A families 112
NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs 111
Epigenomic signatures in age-related macular degeneration: Focus on their role as disease modifiers and therapeutic targets 102
Pharmacogenomics: an update on biologics and small-molecule drugs in the treatment of psoriasis 92
A Hybrid Machine Learning and Network Analysis Approach Reveals Two Parkinson?s Disease Subtypes from 115 RNA-Seq Post-Mortem Brain Samples 92
Genetic determinants highlight the existence of shared etiopathogenetic mechanisms characterizing age-related macular degeneration and neurodegenerative disorders 92
RHO variants and autosomal dominant retinitis pigmentosa: insights from the italian genetic landscape 90
Genetic counselling improves the molecular characterisation of dementing disorders 88
Age and sex modulate sars-cov-2 viral load kinetics: a longitudinal analysis of 1735 subjects 87
Deregulation of ncRNA in Neurodegenerative Disease: Focus on circRNA, lncRNA and miRNA in Amyotrophic Lateral Sclerosis 86
Deciphering the complexity of FSHD: a multimodal approach as a model for rare disorders 84
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families 82
Relationship between nutrition, lifestyle, and neurodegenerative disease: lessons from ADH1B, CYP1A2 and MTHFR 82
Innovations in medicine: exploring ChatGPT's impact on rare disorder management 80
Update on the molecular aspects and methods underlying the complex architecture of FSHD 79
Identification of genetic networks reveals complex associations and risk trajectory linking mild cognitive impairment to Alzheimer's disease 73
Multi-layer picture of neurodegenerative diseases: lessons from the use of big data through artificial intelligence 73
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy 72
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD 71
D4Z4 methylation levels combined with a machine learning pipeline highlight single CpG sites as discriminating biomarkers for FSHD patients 70
Investigation of genetic variations of il6 and il6r as potential prognostic and pharmacogenetics biomarkers: Implications for covid19 and neuroin ammatory disorders 70
Analysis of genetic variants associated with COVID-19 outcome highlights different distributions among populations 67
Precision medicine into clinical practice: a web-based tool enables real?time pharmacogenetic assessment of tailored treatments in psychiatric disorders 66
Epigenetic profiling of the D4Z4 locus: optimization of the protocol for studying DNA methylation at single CpG site level 66
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 66
Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series 65
Shared (epi)genomic background connecting neurodegenerative diseases and type 2 diabetes 65
Tracking the initial diffusion of SARS-CoV-2 Omicron variant in Italy by RT-PCR and comparison with Alpha and Delta variants spreading 64
Investigation of genetic variations of IL6 and IL6R as potential prognostic and pharmacogenetics biomarkers: implications for COVID-19 and neuroinflammatory disorders 64
Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample Monitoring 26
From Genomics to AI: Revolutionizing Precision Medicine in Oncology 23
Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants 23
Totale 11.852
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Categoria #
all - tutte 36.499
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 36.499
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022412 0 0 0 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
2025/20262.683 214 125 333 246 235 80 361 306 256 237 160 130
2026/20271.004 150 130 458 266 0 0 0 0 0 0 0 0
Totale 11.852