IRIS
PISCIOTTA, LIVIA
 Distribuzione geografica
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Continente #
EU - Europa 2.258
AS - Asia 376
NA - Nord America 351
Continente sconosciuto - Info sul continente non disponibili 62
SA - Sud America 36
AF - Africa 4
OC - Oceania 1
Totale 3.088
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Nazione #
IT - Italia 2.200
US - Stati Uniti d'America 325
SG - Singapore 132
CN - Cina 89
VN - Vietnam 89
BD - Bangladesh 25
BR - Brasile 17
FR - Francia 15
HK - Hong Kong 15
CA - Canada 13
AR - Argentina 8
FI - Finlandia 6
IN - India 6
DE - Germania 5
BE - Belgio 4
CO - Colombia 4
ES - Italia 4
GB - Regno Unito 4
ID - Indonesia 4
JM - Giamaica 4
JP - Giappone 4
MX - Messico 4
CL - Cile 3
RU - Federazione Russa 3
SA - Arabia Saudita 3
HN - Honduras 2
IE - Irlanda 2
MD - Moldavia 2
PH - Filippine 2
PL - Polonia 2
SE - Svezia 2
VE - Venezuela 2
AU - Australia 1
BG - Bulgaria 1
BS - Bahamas 1
CH - Svizzera 1
CR - Costa Rica 1
DK - Danimarca 1
EC - Ecuador 1
GR - Grecia 1
GT - Guatemala 1
HR - Croazia 1
IQ - Iraq 1
KE - Kenya 1
KR - Corea 1
MA - Marocco 1
MT - Malta 1
MY - Malesia 1
NL - Olanda 1
OM - Oman 1
PS - Palestinian Territory 1
RS - Serbia 1
TH - Thailandia 1
TN - Tunisia 1
TR - Turchia 1
UA - Ucraina 1
UY - Uruguay 1
ZA - Sudafrica 1
Totale 3.026
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Città #
Genoa 1.040
Genova 662
Rapallo 239
Vado Ligure 211
San Jose 95
Singapore 66
Ashburn 57
Ho Chi Minh City 29
Hanoi 25
Beijing 19
Hong Kong 14
Lauterbourg 14
Milan 8
Bordighera 7
Buffalo 6
Helsinki 6
Miami 5
New York 5
Council Bluffs 4
Frankfurt am Main 4
Houston 4
Lakewood 4
Los Angeles 4
Montreal 4
Orem 4
Tianjin 4
Turin 4
Bologna 3
Brussels 3
Chicago 3
Da Nang 3
Haiphong 3
Rome 3
Thái Bình 3
Toronto 3
Can Tho 2
Capitol Heights 2
Castelfranco Emilia 2
Charlotte 2
Chaska 2
Chennai 2
Dublin 2
Fort Worth 2
Kansas City 2
Kingston 2
Lansdowne 2
Madrid 2
Manila 2
Medellín 2
Mexico City 2
Palermo 2
Pinole 2
Prosper 2
Roscoe 2
Santa Clara 2
Santiago 2
Simpsonville 2
St. Petersburg 2
Stockton 2
Summerville 2
São Paulo 2
Tokyo 2
Warsaw 2
Washington 2
Achinsk 1
Agadir 1
Alajuela 1
Aracaju 1
Asheville 1
Athens 1
Atlanta 1
Baghdad 1
Baltimore 1
Bangkok 1
Belgrade 1
Belo Horizonte 1
Bettendorf 1
Billings 1
Biên Hòa 1
Bogotá 1
Bolivar 1
Botucatu 1
Brandon 1
Buon Ma Thuot 1
Cagliari 1
Canal Winchester 1
Candelaria 1
Canyon Country 1
Cao Lanh 1
Caribou 1
Cecina 1
Cedartown 1
Chandigarh 1
Chesapeake 1
Chisinau 1
Clarkston 1
Cochran 1
Coimbatore 1
Conceição do Jacuípe 1
Copenhagen 1
Totale 2.662
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Nome #
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 216
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients 209
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 179
Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome 165
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases 161
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene 156
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances 156
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study 153
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 137
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant 136
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 131
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 131
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs 131
CASK related disorder: Epilepsy and developmental outcome 130
Autism Spectrum Disorder and other Neurodevelopmental Disorders: cytogenetic and genomic approaches 128
White matter and cerebellar involvement in alternating hemiplegia of childhood 127
Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients 120
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations 115
Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms 99
Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs). 94
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. 91
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases 69
Schimke Immuno-osseous Dysplasia: A Peculiar EEG Pattern 54
Totale 3.088
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Categoria #
all - tutte 11.509
article - articoli 9.471
book - libri 0
conference - conferenze 1.552
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 22.532
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022216 20 11 2 13 24 18 2 39 17 27 8 35
2022/2023287 26 39 5 23 29 41 5 21 46 1 45 6
2023/2024280 10 19 1 31 12 70 28 16 18 21 26 28
2024/2025643 22 35 9 35 79 57 47 119 29 35 85 91
2025/20261.050 145 12 76 94 140 80 162 58 91 72 39 81
2026/2027114 114 0 0 0 0 0 0 0 0 0 0 0
Totale 3.088