IRIS
GINEVRINO, MONIA
 Distribuzione geografica
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Continente #
NA - Nord America 873
AS - Asia 704
EU - Europa 472
SA - Sud America 104
AF - Africa 12
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 1
Totale 2.170
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Nazione #
US - Stati Uniti d'America 855
CN - Cina 376
IE - Irlanda 179
SG - Singapore 149
HK - Hong Kong 90
BR - Brasile 83
RU - Federazione Russa 83
DE - Germania 58
IT - Italia 48
FI - Finlandia 45
VN - Vietnam 35
GB - Regno Unito 11
JP - Giappone 11
IN - India 10
AR - Argentina 9
MX - Messico 9
CA - Canada 8
SE - Svezia 8
PL - Polonia 7
NL - Olanda 6
AT - Austria 5
BD - Bangladesh 5
ES - Italia 4
FR - Francia 4
ID - Indonesia 4
IQ - Iraq 4
TR - Turchia 4
ZA - Sudafrica 4
EC - Ecuador 3
KE - Kenya 3
UA - Ucraina 3
VE - Venezuela 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AM - Armenia 2
BE - Belgio 2
BG - Bulgaria 2
CO - Colombia 2
EG - Egitto 2
EU - Europa 2
IR - Iran 2
NP - Nepal 2
PE - Perù 2
RO - Romania 2
SA - Arabia Saudita 2
AE - Emirati Arabi Uniti 1
BO - Bolivia 1
CH - Svizzera 1
CI - Costa d'Avorio 1
CL - Cile 1
CY - Cipro 1
GN - Guinea 1
JO - Giordania 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LT - Lituania 1
LV - Lettonia 1
MA - Marocco 1
MD - Moldavia 1
MT - Malta 1
NZ - Nuova Zelanda 1
PA - Panama 1
PH - Filippine 1
PK - Pakistan 1
UZ - Uzbekistan 1
Totale 2.170
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Città #
Dublin 179
Chandler 151
Beijing 106
Hong Kong 90
Ashburn 81
Dallas 75
Singapore 70
Nanjing 61
New York 37
Wilmington 34
Boardman 33
Shanghai 33
Princeton 32
Helsinki 30
Lawrence 29
Los Angeles 27
Medford 26
Munich 24
Nanchang 23
Jacksonville 21
Shenyang 19
Changsha 17
Redondo Beach 17
Ho Chi Minh City 14
Jiaxing 13
Pavia 13
Hebei 12
Tianjin 12
Tokyo 11
Chicago 10
São Paulo 10
Milan 9
Moscow 9
Buffalo 8
Hangzhou 8
Hanoi 8
Robbiate 8
Warsaw 7
Brooklyn 6
Stockholm 6
Turku 6
Denver 5
Brasília 4
Cagliari 4
Chennai 4
Fairfield 4
Houston 4
Mexico City 4
Montreal 4
Piscataway 4
Poplar 4
Pune 4
Torino 4
Washington 4
Zhengzhou 4
Berlin 3
Boston 3
Castronno 3
Johannesburg 3
Nairobi 3
Ribeirão Preto 3
Rio de Janeiro 3
Seattle 3
Sorocaba 3
The Dalles 3
Thái Nguyên 3
Toronto 3
Ankara 2
Belo Horizonte 2
Can Tho 2
Carapicuíba 2
Columbus 2
Da Nang 2
Dearborn 2
Düsseldorf 2
Falkenstein 2
Falls Church 2
Frankfurt am Main 2
Guangzhou 2
Ha Long 2
Haiphong 2
Hefei 2
Kathmandu 2
Medina 2
Norwalk 2
Nuremberg 2
Phoenix 2
Porto Alegre 2
Recife 2
Redwood City 2
Salvador 2
San Juan 2
Santa Clara 2
Shenzhen 2
Sofia 2
Topeka 2
Turin 2
Vienna 2
Volta Redonda 2
Woodbridge 2
Totale 1.544
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Nome #
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene 93
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 93
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene 92
DYT2 screening in early-onset isolated dystonia 90
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1 89
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation 88
A novel IRF2BPL truncating variant is associated with endolysosomal storage 88
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 87
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 85
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 84
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form 80
DYT2 screening in early-onset isolated dystonia in Italy 80
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation 80
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation 78
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population 78
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 77
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1 76
Age and sex prevalence estimate of Joubert syndrome in Italy 74
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 73
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes 71
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders 70
Impulsive-compulsive behaviors in parkin-associated Parkinson disease 68
Genetic characterization and genotype-phenotype correlation of cerebellar and brainstem congenital defects 67
Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation 62
The Contursi family 20 years later: Intrafamilial variability in a kindred with A53T mutation of SCNA gene 61
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation 57
Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models 53
APP-Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes 52
The multiple faces of TOR1A: Different inheritance, different phenotype 47
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases 39
Totale 2.232
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Categoria #
all - tutte 11.029
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 11.029
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202146 0 0 0 0 0 9 1 17 19 0 0 0
2021/2022119 1 0 1 0 2 3 2 9 5 2 19 75
2022/2023457 57 45 2 25 30 36 0 30 211 4 12 5
2023/2024193 19 33 8 3 19 54 28 10 0 3 7 9
2024/2025441 11 38 9 5 7 19 16 27 130 24 52 103
2025/2026647 102 97 109 143 158 38 0 0 0 0 0 0
Totale 2.232