IRIS
ZAMPATTI, STEFANIA
 Distribuzione geografica
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Continente #
NA - Nord America 5.172
AS - Asia 887
EU - Europa 706
SA - Sud America 134
AF - Africa 16
Continente sconosciuto - Info sul continente non disponibili 1
Totale 6.916
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Nazione #
US - Stati Uniti d'America 5.138
SG - Singapore 447
CN - Cina 169
IT - Italia 147
RU - Federazione Russa 111
BR - Brasile 110
IE - Irlanda 88
VN - Vietnam 81
DE - Germania 74
HK - Hong Kong 71
FR - Francia 56
SE - Svezia 51
GB - Regno Unito 37
FI - Finlandia 34
UA - Ucraina 33
JP - Giappone 29
CA - Canada 23
PL - Polonia 23
NL - Olanda 20
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
BD - Bangladesh 7
CZ - Repubblica Ceca 5
CL - Cile 4
ES - Italia 4
ID - Indonesia 4
IQ - Iraq 4
BE - Belgio 3
MA - Marocco 3
PH - Filippine 3
RO - Romania 3
AZ - Azerbaigian 2
BO - Bolivia 2
CH - Svizzera 2
EC - Ecuador 2
HR - Croazia 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
VE - Venezuela 1
Totale 6.916
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Città #
Wilmington 1.449
Houston 1.120
Woodbridge 764
Singapore 260
Fairfield 191
Ashburn 156
Chandler 130
San Jose 112
Beijing 95
Ann Arbor 78
Seattle 77
Hong Kong 69
Los Angeles 64
Cambridge 59
Chicago 58
Dublin 56
Dearborn 47
Medford 47
Rome 41
Buffalo 37
Council Bluffs 36
The Dalles 35
New York 34
Santa Clara 34
Ho Chi Minh City 32
Tokyo 27
Jacksonville 26
Salt Lake City 24
Lawrence 21
Lauterbourg 17
Munich 17
Hanoi 16
Helsinki 16
Kraków 15
Moscow 15
Dallas 14
Phoenix 14
San Diego 12
Lancaster 10
Nuremberg 10
Orem 10
Palo Alto 10
São Paulo 10
Tampa 9
Chennai 8
Elk Grove Village 8
Frankfurt am Main 8
Johannesburg 7
Lappeenranta 7
London 7
Belo Horizonte 6
Milan 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
Atlanta 4
Brno 4
Brooklyn 4
Cagliari 4
Denver 4
Menlo Park 4
Mexico City 4
Redwood City 4
Stockholm 4
Tashkent 4
Turku 4
Uberlândia 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
North Bergen 3
Pisa 3
Porto Alegre 3
Roubaix 3
Verona 3
Zhengzhou 3
Ascoli Piceno 2
Asunción 2
Augusta 2
Baghdad 2
Baku 2
Totale 5.611
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Nome #
Application of precision medicine in neurodegenerative diseases 543
Review of nutrient actions on age-related macular degeneration 504
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS) 478
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 464
Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis 460
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing 450
Familial Kaposi's Sarcoma in HHV8 infected subjects presenting the G-174C allele of the IL-6 promoter: a possible role for EBV? 431
Digenic inheritance of shortened repeat units of the D4Z4 region and a loss-of-function variant in SMCHD1 in a Family with FSHD 345
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis 301
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era. 290
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report. 238
Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease. 236
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease) 223
Next Generation Sequencing and ALS: known genes, different phenotyphes. 210
Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study. 206
PCR-based approach for qualitative molecular analysis of six neurotropic pathogens 202
Ngs analysis for molecular diagnosis of Retinitis Pigmentosa (RP): Detection of a novel variant in PRPH2 gene 195
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset 121
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients 111
Genetic counseling and NGS screening for recessive LGMD2A families 100
A large family with p.Arg554His mutation in ABCD1: clinical features and genotype/phenotype correlation in female carriers 99
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4) 84
C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies 78
Genetic counselling improves the molecular characterisation of dementing disorders 74
RHO variants and autosomal dominant retinitis pigmentosa: insights from the italian genetic landscape 67
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 66
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report 65
Innovations in medicine: exploring ChatGPT's impact on rare disorder management 63
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation 61
A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy 61
Precision medicine into clinical practice: a web-based tool enables real?time pharmacogenetic assessment of tailored treatments in psychiatric disorders 48
Harmonizing genetic testing for Parkinson's disease: results of the PARKNET multicentric study 46
Bioinformatic tools are essential to integrating pharmacogenomics into clinical practice: lessons from neuropsychiatric disorders 45
New variants and genotype–phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort 44
Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A 42
Totale 7.051
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Categoria #
all - tutte 18.729
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 18.729
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202183 0 0 0 0 0 0 0 0 0 45 25 13
2021/2022270 12 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
2025/20261.278 111 61 159 145 123 61 198 156 134 130 0 0
Totale 7.051