IRIS
ZAMPATTI, STEFANIA
 Distribuzione geografica
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Continente #
NA - Nord America 5.350
AS - Asia 934
EU - Europa 742
Continente sconosciuto - Info sul continente non disponibili 148
SA - Sud America 134
AF - Africa 16
Totale 7.324
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Nazione #
US - Stati Uniti d'America 5.315
SG - Singapore 452
IT - Italia 180
CN - Cina 178
RU - Federazione Russa 111
BR - Brasile 110
IE - Irlanda 88
VN - Vietnam 82
DE - Germania 74
HK - Hong Kong 73
FR - Francia 57
SE - Svezia 51
BD - Bangladesh 37
GB - Regno Unito 37
FI - Finlandia 34
UA - Ucraina 33
JP - Giappone 29
CA - Canada 23
PL - Polonia 23
NL - Olanda 21
IN - India 18
TR - Turchia 12
AR - Argentina 11
KG - Kirghizistan 10
UZ - Uzbekistan 10
AT - Austria 9
KR - Corea 9
ZA - Sudafrica 9
MX - Messico 8
CZ - Repubblica Ceca 5
CL - Cile 4
ES - Italia 4
ID - Indonesia 4
IQ - Iraq 4
BE - Belgio 3
HR - Croazia 3
MA - Marocco 3
PH - Filippine 3
RO - Romania 3
AZ - Azerbaigian 2
BO - Bolivia 2
CH - Svizzera 2
EC - Ecuador 2
PK - Pakistan 2
PY - Paraguay 2
RS - Serbia 2
SA - Arabia Saudita 2
SY - Repubblica araba siriana 2
TW - Taiwan 2
AE - Emirati Arabi Uniti 1
BG - Bulgaria 1
CO - Colombia 1
CR - Costa Rica 1
DJ - Gibuti 1
DZ - Algeria 1
EU - Europa 1
GT - Guatemala 1
LY - Libia 1
OM - Oman 1
PA - Panama 1
PE - Perù 1
PT - Portogallo 1
TH - Thailandia 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
VE - Venezuela 1
Totale 7.177
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Città #
Wilmington 1.449
Houston 1.121
Woodbridge 764
Singapore 263
Fairfield 191
Ashburn 169
Chandler 130
San Jose 124
Beijing 96
Council Bluffs 81
Seattle 79
Ann Arbor 78
Los Angeles 75
Hong Kong 69
Cambridge 59
Chicago 58
Dublin 56
Dearborn 47
Medford 47
Rome 44
New York 43
Santa Clara 41
Buffalo 37
The Dalles 35
Ho Chi Minh City 32
Tokyo 27
Jacksonville 26
Salt Lake City 26
Lawrence 21
Hanoi 17
Lauterbourg 17
Munich 17
Dallas 16
Helsinki 16
Kraków 15
Moscow 15
Phoenix 15
San Diego 12
Milan 11
Monte Vista 11
Lancaster 10
Nuremberg 10
Orem 10
Palo Alto 10
São Paulo 10
Tampa 9
Chennai 8
Elk Grove Village 8
Frankfurt am Main 8
Atlanta 7
Johannesburg 7
Lappeenranta 7
London 7
Belo Horizonte 6
Philadelphia 6
Redondo Beach 6
Sterling 6
Toronto 6
Vienna 6
Amsterdam 5
Boardman 5
Istanbul 5
Montreal 5
Poplar 5
Rio de Janeiro 5
San Francisco 5
Warsaw 5
Ankara 4
Brno 4
Brooklyn 4
Cagliari 4
Denver 4
Menlo Park 4
Mexico City 4
Miami 4
Redwood City 4
Stockholm 4
Tashkent 4
Turku 4
Uberlândia 4
Verona 4
Boston 3
Brasília 3
Can Tho 3
Charlotte 3
City of London 3
Colorado Springs 3
Columbus 3
Guangzhou 3
Kansas City 3
Las Vegas 3
Manchester 3
Montecchio Maggiore 3
Naples 3
North Bergen 3
Pisa 3
Porto Alegre 3
Richmond 3
Roubaix 3
Zagreb 3
Totale 5.750
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Nome #
Application of precision medicine in neurodegenerative diseases 548
Review of nutrient actions on age-related macular degeneration 518
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS) 480
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 473
Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis 464
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing 459
Familial Kaposi's Sarcoma in HHV8 infected subjects presenting the G-174C allele of the IL-6 promoter: a possible role for EBV? 435
Digenic inheritance of shortened repeat units of the D4Z4 region and a loss-of-function variant in SMCHD1 in a Family with FSHD 352
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis 304
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era. 295
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report. 241
Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease. 239
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease) 229
Next Generation Sequencing and ALS: known genes, different phenotyphes. 216
Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study. 209
PCR-based approach for qualitative molecular analysis of six neurotropic pathogens 204
Ngs analysis for molecular diagnosis of Retinitis Pigmentosa (RP): Detection of a novel variant in PRPH2 gene 199
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients 153
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset 126
Genetic counseling and NGS screening for recessive LGMD2A families 103
A large family with p.Arg554His mutation in ABCD1: clinical features and genotype/phenotype correlation in female carriers 100
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies 88
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4) 85
Genetic counselling improves the molecular characterisation of dementing disorders 76
RHO variants and autosomal dominant retinitis pigmentosa: insights from the italian genetic landscape 73
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations 73
Innovations in medicine: exploring ChatGPT's impact on rare disorder management 70
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 66
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report 66
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy 65
Precision medicine into clinical practice: a web-based tool enables real?time pharmacogenetic assessment of tailored treatments in psychiatric disorders 55
New variants and genotype–phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort 52
Harmonizing genetic testing for Parkinson's disease: results of the PARKNET multicentric study 48
Bioinformatic tools are essential to integrating pharmacogenomics into clinical practice: lessons from neuropsychiatric disorders 48
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A 46
BRCA Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) BRCA2 Variant 18
Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants 17
From Genomics to AI: Revolutionizing Precision Medicine in Oncology 16
Sample Tracking Tool: A Comprehensive Approach Based on OpenArray Technology and R Scripting for Genomic Sample Monitoring 15
Totale 7.324
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Categoria #
all - tutte 20.922
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 20.922
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022258 0 8 26 31 30 26 7 14 15 33 10 58
2022/2023329 27 36 3 37 31 82 33 17 38 4 14 7
2023/2024112 20 5 7 2 9 32 9 2 2 2 1 21
2024/2025930 24 140 67 40 15 34 73 28 117 255 73 64
2025/20261.432 111 61 159 145 123 61 198 156 134 131 98 55
2026/2027119 55 64 0 0 0 0 0 0 0 0 0 0
Totale 7.324