IRIS
GINEVRINO, MONIA
 Distribuzione geografica
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Continente #
NA - Nord America 516
EU - Europa 281
AS - Asia 265
Continente sconosciuto - Info sul continente non disponibili 4
Totale 1.066
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Nazione #
US - Stati Uniti d'America 515
CN - Cina 260
IE - Irlanda 177
IT - Italia 35
FI - Finlandia 33
DE - Germania 27
IN - India 3
UA - Ucraina 3
A2 - ???statistics.table.value.countryCode.A2??? 2
BE - Belgio 2
EU - Europa 2
IR - Iran 2
SE - Svezia 2
CA - Canada 1
GB - Regno Unito 1
MD - Moldavia 1
Totale 1.066
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Città #
Dublin 177
Chandler 151
Nanjing 61
Beijing 59
Ashburn 41
Wilmington 34
Princeton 32
Lawrence 29
Shanghai 29
Medford 26
Helsinki 24
New York 24
Nanchang 23
Jacksonville 20
Shenyang 19
Changsha 16
Jiaxing 13
Hebei 12
Tianjin 11
Pavia 9
Robbiate 8
Hangzhou 7
Milan 6
Cagliari 4
Fairfield 4
Torino 4
Washington 4
Berlin 3
Chicago 3
Los Angeles 3
Pune 3
Dearborn 2
Falls Church 2
Houston 2
Norwalk 2
Redwood City 2
Seattle 2
Turin 2
Woodbridge 2
Zhengzhou 2
Ann Arbor 1
Brierley Hill 1
Brussels 1
Buffalo 1
Cambridge 1
Chisinau 1
Des Moines 1
Falkenstein 1
Hefei 1
Ningbo 1
Orange 1
Rognano 1
Shenzhen 1
Taizhou 1
Toronto 1
Totale 892
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Nome #
DYT2 screening in early-onset isolated dystonia in Italy 52
DYT2 screening in early-onset isolated dystonia 50
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 49
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 48
Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form 47
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 47
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 46
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 46
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 45
Impulsive-compulsive behaviors in parkin-associated Parkinson disease 44
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) 42
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort 42
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation 40
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation 39
The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation 37
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population 37
The Contursi family 20 years later: Intrafamilial variability in a kindred with A53T mutation of SCNA gene 37
Genetic characterization and genotype-phenotype correlation of cerebellar and brainstem congenital defects 36
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 35
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 35
Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models 33
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes 33
A novel IRF2BPL truncating variant is associated with endolysosomal storage 32
The multiple faces of TOR1A: Different inheritance, different phenotype 31
Age and sex prevalence estimate of Joubert syndrome in Italy 31
Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation 28
APP-Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes 28
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders 27
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation 26
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases 5
Totale 1.128
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Categoria #
all - tutte 5.050
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 5.050
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20193 0 0 0 0 0 0 0 0 0 0 1 2
2019/2020250 63 109 0 7 0 4 1 8 5 27 25 1
2020/202162 6 0 0 0 10 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
2023/2024177 19 33 8 3 19 54 28 10 0 3 0 0
Totale 1.128