IRIS
GINEVRINO, MONIA
 Distribuzione geografica
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Continente #
NA - Nord America 1.080
AS - Asia 853
EU - Europa 536
SA - Sud America 125
AF - Africa 53
Continente sconosciuto - Info sul continente non disponibili 4
OC - Oceania 2
Totale 2.653
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Nazione #
US - Stati Uniti d'America 1.055
CN - Cina 404
SG - Singapore 186
IE - Irlanda 180
HK - Hong Kong 97
BR - Brasile 94
RU - Federazione Russa 84
VN - Vietnam 68
DE - Germania 63
IT - Italia 60
FI - Finlandia 46
FR - Francia 37
ZA - Sudafrica 36
IN - India 21
JP - Giappone 16
GB - Regno Unito 14
CA - Canada 12
IQ - Iraq 12
AR - Argentina 11
BD - Bangladesh 11
MX - Messico 11
ID - Indonesia 8
PL - Polonia 8
SE - Svezia 8
NL - Olanda 7
TR - Turchia 7
AT - Austria 6
VE - Venezuela 6
CO - Colombia 5
ES - Italia 5
KE - Kenya 5
EC - Ecuador 4
RO - Romania 4
EG - Egitto 3
PH - Filippine 3
SA - Arabia Saudita 3
UA - Ucraina 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AM - Armenia 2
BE - Belgio 2
BG - Bulgaria 2
EU - Europa 2
IR - Iran 2
MA - Marocco 2
MT - Malta 2
NP - Nepal 2
PE - Perù 2
PK - Pakistan 2
AE - Emirati Arabi Uniti 1
AU - Australia 1
BH - Bahrain 1
BO - Bolivia 1
BW - Botswana 1
CH - Svizzera 1
CI - Costa d'Avorio 1
CL - Cile 1
CY - Cipro 1
DZ - Algeria 1
ET - Etiopia 1
GN - Guinea 1
HN - Honduras 1
HU - Ungheria 1
JO - Giordania 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LT - Lituania 1
LV - Lettonia 1
MD - Moldavia 1
MY - Malesia 1
NZ - Nuova Zelanda 1
PA - Panama 1
PS - Palestinian Territory 1
SN - Senegal 1
TN - Tunisia 1
UY - Uruguay 1
UZ - Uzbekistan 1
Totale 2.653
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Città #
Dublin 180
Chandler 151
Ashburn 119
Beijing 110
San Jose 109
Hong Kong 97
Singapore 88
Dallas 77
Nanjing 61
New York 41
Johannesburg 34
Wilmington 34
Boardman 33
Shanghai 33
Princeton 32
Helsinki 31
Lawrence 29
Los Angeles 29
Ho Chi Minh City 27
Medford 26
Lauterbourg 25
Munich 24
Nanchang 23
Jacksonville 21
Shenyang 19
Changsha 17
Redondo Beach 17
Hanoi 15
Tokyo 15
Jiaxing 13
Milan 13
Pavia 13
São Paulo 13
Hebei 12
Tianjin 12
Chicago 11
Buffalo 10
Moscow 9
Hangzhou 8
Robbiate 8
Warsaw 8
Frankfurt am Main 7
Brooklyn 6
Stockholm 6
Turku 6
Baghdad 5
Denver 5
Mexico City 5
Nairobi 5
Brasília 4
Cagliari 4
Chennai 4
Da Nang 4
Fairfield 4
Houston 4
Montreal 4
Piscataway 4
Poplar 4
Pune 4
Santa Clara 4
Torino 4
Washington 4
Zhengzhou 4
Atlanta 3
Berlin 3
Boston 3
Can Tho 3
Castronno 3
Council Bluffs 3
Ribeirão Preto 3
Rio de Janeiro 3
Rome 3
Seattle 3
Sorocaba 3
The Dalles 3
Thái Nguyên 3
Toronto 3
Vienna 3
Amsterdam 2
Ankara 2
Belo Horizonte 2
Campinas 2
Caracas 2
Carapicuíba 2
Columbus 2
Dearborn 2
Düsseldorf 2
Erbil 2
Falkenstein 2
Falls Church 2
Guangzhou 2
Guayaquil 2
Ha Long 2
Haiphong 2
Hefei 2
Jakarta 2
Kathmandu 2
London 2
Lấp Vò 2
Medellín 2
Totale 1.837
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Nome #
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 119
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation 112
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 112
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 112
A novel IRF2BPL truncating variant is associated with endolysosomal storage 112
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 111
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 1 108
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 108
DYT2 screening in early-onset isolated dystonia 104
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation 99
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population 98
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 96
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 96
Age and sex prevalence estimate of Joubert syndrome in Italy 96
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form 93
DYT2 screening in early-onset isolated dystonia in Italy 93
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 90
Genetic characterization and genotype-phenotype correlation of cerebellar and brainstem congenital defects 89
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders 89
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation 86
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 83
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes 83
Impulsive-compulsive behaviors in parkin-associated Parkinson disease 81
Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation 70
The Contursi family 20 years later: Intrafamilial variability in a kindred with A53T mutation of SCNA gene 69
APP-Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes 68
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation 67
Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models 62
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases 57
The multiple faces of TOR1A: Different inheritance, different phenotype 52
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome 2
Totale 2.717
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Categoria #
all - tutte 12.613
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 12.613
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20261.132 102 97 109 143 158 48 175 60 114 65 50 11
Totale 2.717