IRIS
ZAMPATTI, STEFANIA
 Distribuzione geografica
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Continente #
NA - Nord America 4.385
EU - Europa 384
AS - Asia 207
SA - Sud America 3
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.980
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Nazione #
US - Stati Uniti d'America 4.383
SG - Singapore 121
IE - Irlanda 88
IT - Italia 62
CN - Cina 52
DE - Germania 49
SE - Svezia 47
UA - Ucraina 31
FR - Francia 27
FI - Finlandia 19
GB - Regno Unito 18
PL - Polonia 15
RU - Federazione Russa 12
KG - Kirghizistan 9
KR - Corea 7
TR - Turchia 6
UZ - Uzbekistan 6
CZ - Repubblica Ceca 5
NL - Olanda 4
IN - India 3
AT - Austria 2
BE - Belgio 2
CA - Canada 2
JP - Giappone 2
AR - Argentina 1
BG - Bulgaria 1
BR - Brasile 1
CL - Cile 1
ES - Italia 1
EU - Europa 1
RO - Romania 1
SA - Arabia Saudita 1
Totale 4.980
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Città #
Wilmington 1.447
Houston 1.115
Woodbridge 764
Fairfield 191
Chandler 130
Singapore 105
Ashburn 97
Ann Arbor 78
Seattle 74
Cambridge 59
Dublin 56
Dearborn 47
Medford 47
Beijing 30
Jacksonville 26
Rome 25
Lawrence 21
Santa Clara 21
New York 20
Kraków 15
Munich 14
Helsinki 12
San Diego 12
Palo Alto 10
Moscow 6
Boardman 4
Brno 4
Istanbul 4
Menlo Park 4
Milan 4
Redwood City 4
Colorado Springs 3
London 3
Pisa 3
Verona 3
Zhengzhou 3
Center 2
Chiari 2
Chikuma 2
Del Norte 2
Falls Church 2
Groningen 2
Guangzhou 2
Jinan 2
Leawood 2
Los Angeles 2
Mülheim 2
Nanjing 2
Ningbo 2
Norwalk 2
Nürnberg 2
Redmond 2
Reggio Calabria 2
Romainville 2
Velletri 2
Vienna 2
Waanrode 2
Bengaluru 1
Bethesda 1
Cernobbio 1
Changsha 1
Cleveland 1
Corridonia 1
Council Bluffs 1
Delhi 1
Frankfurt am Main 1
Hanover 1
Iasi 1
Indiana 1
Inverigo 1
Islington 1
Kilburn 1
Lappeenranta 1
Lombard 1
Miami 1
Mountain View 1
Nanchang 1
Nanning 1
Nuremberg 1
Phoenix 1
Pune 1
Quzhou 1
Richmond 1
Saint Petersburg 1
San Francisco 1
Seoul 1
Shenyang 1
Sofia 1
São Paulo 1
Toronto 1
Trabzon 1
Turin 1
Zhoushan 1
Totale 4.539
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Nome #
Review of nutrient actions on age-related macular degeneration 446
Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis 427
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 416
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS) 412
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing 392
Familial Kaposi's Sarcoma in HHV8 infected subjects presenting the G-174C allele of the IL-6 promoter: a possible role for EBV? 383
Application of precision medicine in neurodegenerative diseases 296
Digenic inheritance of shortened repeat units of the D4Z4 region and a loss-of-function variant in SMCHD1 in a Family with FSHD 292
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis 260
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era. 229
Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease. 204
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report. 202
Next Generation Sequencing and ALS: known genes, different phenotyphes. 179
PCR-based approach for qualitative molecular analysis of six neurotropic pathogens 174
Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study. 167
Ngs analysis for molecular diagnosis of Retinitis Pigmentosa (RP): Detection of a novel variant in PRPH2 gene 167
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease) 159
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset 63
Genetic counseling and NGS screening for recessive LGMD2A families 54
A large family with p.Arg554His mutation in ABCD1: clinical features and genotype/phenotype correlation in female carriers 45
Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4) 39
Genetic counselling improves the molecular characterisation of dementing disorders 28
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 23
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report 17
Totale 5.074
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Categoria #
all - tutte 11.700
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 11.700
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.313 0 0 0 161 140 159 165 149 167 139 111 122
2020/20211.154 120 128 150 127 124 121 151 126 24 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
2024/2025231 24 140 67 0 0 0 0 0 0 0 0 0
Totale 5.074