IRIS
GINEVRINO, MONIA
 Distribuzione geografica
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Continente #
NA - Nord America 1.430
AS - Asia 858
EU - Europa 553
SA - Sud America 126
Continente sconosciuto - Info sul continente non disponibili 68
AF - Africa 53
OC - Oceania 2
Totale 3.090
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Nazione #
US - Stati Uniti d'America 1.392
CN - Cina 405
SG - Singapore 190
IE - Irlanda 181
HK - Hong Kong 97
BR - Brasile 94
RU - Federazione Russa 84
IT - Italia 70
VN - Vietnam 68
DE - Germania 63
FI - Finlandia 46
FR - Francia 37
ZA - Sudafrica 36
IN - India 21
GB - Regno Unito 19
JP - Giappone 16
CA - Canada 14
AR - Argentina 12
IQ - Iraq 12
MX - Messico 12
BD - Bangladesh 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
CR - Costa Rica 3
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
HN - Honduras 2
IR - Iran 2
MA - Marocco 2
MT - Malta 2
NP - Nepal 2
PA - Panama 2
PE - Perù 2
PK - Pakistan 2
AE - Emirati Arabi Uniti 1
AU - Australia 1
BA - Bosnia-Erzegovina 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
GT - Guatemala 1
HU - Ungheria 1
JM - Giamaica 1
JO - Giordania 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
LT - Lituania 1
LV - Lettonia 1
MD - Moldavia 1
MQ - Martinica 1
MY - Malesia 1
NZ - Nuova Zelanda 1
PS - Palestinian Territory 1
SN - Senegal 1
SV - El Salvador 1
TN - Tunisia 1
TT - Trinidad e Tobago 1
UY - Uruguay 1
UZ - Uzbekistan 1
Totale 3.026
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Città #
Dublin 180
Chandler 151
Ashburn 141
San Jose 132
Beijing 110
Hong Kong 97
Singapore 91
Dallas 80
Nanjing 61
Council Bluffs 51
New York 45
Johannesburg 34
Wilmington 34
Boardman 33
Los Angeles 33
Shanghai 33
Princeton 32
Helsinki 31
Lawrence 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
Santa Clara 9
Hangzhou 8
Robbiate 8
Warsaw 8
Atlanta 7
Frankfurt am Main 7
Brooklyn 6
Mexico City 6
Stockholm 6
Turku 6
Baghdad 5
Denver 5
Houston 5
Montreal 5
Nairobi 5
Brasília 4
Cagliari 4
Chennai 4
Da Nang 4
Fairfield 4
North Bergen 4
Phoenix 4
Piscataway 4
Poplar 4
Pune 4
Seattle 4
Torino 4
Turin 4
Washington 4
Zhengzhou 4
Berlin 3
Boston 3
Can Tho 3
Castronno 3
Columbus 3
Ribeirão Preto 3
Rio de Janeiro 3
Rome 3
San Francisco 3
San José 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
City of London 2
Dearborn 2
Des Moines 2
Düsseldorf 2
Elk Grove Village 2
Erbil 2
Falkenstein 2
Falls Church 2
Guangzhou 2
Guayaquil 2
Totale 1.966
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Nome #
Genetic characterization and genotype-phenotype correlation of cerebellar and brainstem congenital defects 258
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 125
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 124
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 122
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 119
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 1 118
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation 117
A novel IRF2BPL truncating variant is associated with endolysosomal storage 117
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 116
DYT2 screening in early-onset isolated dystonia 109
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 103
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population 103
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form 102
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 1 102
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation 102
Age and sex prevalence estimate of Joubert syndrome in Italy 101
DYT2 screening in early-onset isolated dystonia in Italy 99
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 98
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders 97
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation 92
Impulsive-compulsive behaviors in parkin-associated Parkinson disease 91
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 86
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes 86
Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation 75
APP-Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes 74
The Contursi family 20 years later: Intrafamilial variability in a kindred with A53T mutation of SCNA gene 74
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation 72
Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models 69
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases 69
The multiple faces of TOR1A: Different inheritance, different phenotype 55
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome 15
Totale 3.090
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Categoria #
all - tutte 14.308
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 14.308
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022117 0 0 0 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
2025/20261.137 102 97 109 143 158 48 175 60 114 65 50 16
2026/2027368 27 184 73 84 0 0 0 0 0 0 0 0
Totale 3.090