IRIS
GINEVRINO, MONIA
 Distribuzione geografica
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Continente #
NA - Nord America 1.275
AS - Asia 857
EU - Europa 540
SA - Sud America 126
Continente sconosciuto - Info sul continente non disponibili 68
AF - Africa 53
OC - Oceania 2
Totale 2.921
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Nazione #
US - Stati Uniti d'America 1.245
CN - Cina 405
SG - Singapore 189
IE - Irlanda 181
HK - Hong Kong 97
BR - Brasile 94
RU - Federazione Russa 84
VN - Vietnam 68
DE - Germania 63
IT - Italia 62
FI - Finlandia 46
FR - Francia 37
ZA - Sudafrica 36
IN - India 21
JP - Giappone 16
GB - Regno Unito 14
AR - Argentina 12
CA - Canada 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
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
CR - Costa Rica 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
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
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
MQ - Martinica 1
MY - Malesia 1
NZ - Nuova Zelanda 1
PA - Panama 1
PS - Palestinian Territory 1
SN - Senegal 1
SV - El Salvador 1
TN - Tunisia 1
UY - Uruguay 1
UZ - Uzbekistan 1
Totale 2.857
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Città #
Dublin 180
Chandler 151
Ashburn 127
Beijing 110
San Jose 109
Hong Kong 97
Singapore 90
Dallas 79
Nanjing 61
New York 45
Johannesburg 34
Wilmington 34
Boardman 33
Shanghai 33
Princeton 32
Helsinki 31
Los Angeles 30
Lawrence 29
Ho Chi Minh City 27
Medford 26
Lauterbourg 25
Munich 24
Nanchang 23
Council Bluffs 22
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
Mexico City 6
Stockholm 6
Turku 6
Atlanta 5
Baghdad 5
Denver 5
Houston 5
Nairobi 5
Santa Clara 5
Brasília 4
Cagliari 4
Chennai 4
Da Nang 4
Fairfield 4
Montreal 4
Piscataway 4
Poplar 4
Pune 4
Torino 4
Washington 4
Zhengzhou 4
Berlin 3
Boston 3
Can Tho 3
Castronno 3
Columbus 3
Phoenix 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
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
Totale 1.880
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Nome #
Genetic characterization and genotype-phenotype correlation of cerebellar and brainstem congenital defects 244
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 120
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 115
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 115
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation 113
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 113
A novel IRF2BPL truncating variant is associated with endolysosomal storage 113
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 1 112
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 108
DYT2 screening in early-onset isolated dystonia 105
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population 99
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation 99
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 98
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 97
Age and sex prevalence estimate of Joubert syndrome in Italy 97
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form 95
DYT2 screening in early-onset isolated dystonia in Italy 95
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders 93
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 92
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation 87
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 84
Impulsive-compulsive behaviors in parkin-associated Parkinson disease 83
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes 83
Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation 71
APP-Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes 71
The Contursi family 20 years later: Intrafamilial variability in a kindred with A53T mutation of SCNA gene 70
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation 68
Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models 64
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases 61
The multiple faces of TOR1A: Different inheritance, different phenotype 52
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome 4
Totale 2.921
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Categoria #
all - tutte 13.327
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 13.327
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022118 0 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
2025/20261.137 102 97 109 143 158 48 175 60 114 65 50 16
2026/2027199 27 172 0 0 0 0 0 0 0 0 0 0
Totale 2.921