IRIS
PISCIOTTA, LIVIA
 Distribuzione geografica
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Continente #
EU - Europa 2.329
AS - Asia 168
NA - Nord America 25
SA - Sud America 22
AF - Africa 1
Totale 2.545
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Nazione #
IT - Italia 2.323
SG - Singapore 67
CN - Cina 45
VN - Vietnam 43
US - Stati Uniti d'America 18
BR - Brasile 12
AR - Argentina 7
HK - Hong Kong 5
ID - Indonesia 4
MX - Messico 4
CA - Canada 3
IN - India 2
RU - Federazione Russa 2
CL - Cile 1
DE - Germania 1
EC - Ecuador 1
ES - Italia 1
HR - Croazia 1
MA - Marocco 1
SA - Arabia Saudita 1
SE - Svezia 1
TH - Thailandia 1
UY - Uruguay 1
Totale 2.545
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Città #
Genoa 1.109
Genova 703
Rapallo 270
Vado Ligure 228
Ho Chi Minh City 18
Singapore 17
Beijing 15
Ashburn 13
Hanoi 11
Bordighera 8
Hong Kong 5
Tianjin 5
Haiphong 3
Thái Bình 3
Mexico City 2
Palermo 2
San Jose 2
Toronto 2
Achinsk 1
Agadir 1
Aracaju 1
Bangkok 1
Belo Horizonte 1
Can Tho 1
Cecina 1
Chennai 1
Chicago 1
Coimbatore 1
Conceição do Jacuípe 1
Córdoba 1
Formosa 1
Fortaleza 1
Franca 1
González Catán 1
Gothenburg 1
Ha Long 1
Hải Dương 1
Itapetinga 1
Jakarta 1
Kemerovo 1
Laferrere 1
Lagoa Santa 1
Latacunga 1
Makkah 1
Maranguape 1
María Juana 1
Milan 1
Montevideo 1
Montreal 1
Pirapora 1
Quilmes 1
Registro 1
Resistencia 1
Rio Branco 1
Santiago 1
Seattle 1
São Paulo 1
Thành Phố Bà Rịa 1
Veracruz 1
Vinh 1
Zapopan 1
Totale 2.459
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Nome #
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients 178
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 171
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 148
Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome 142
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases 131
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 121
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene 120
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 116
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant 116
Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern 111
White matter and cerebellar involvement in alternating hemiplegia of childhood 105
Phenotypic spectrum overview of patients with neurodevelopmental disorders sharing one recurrent copy number variant (CNV) and carrying different additional CNVs 103
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia 101
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study 101
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 97
CASK related disorder: Epilepsy and developmental outcome 96
Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients 95
Autism Spectrum Disorder and other Neurodevelopmental Disorders: cytogenetic and genomic approaches 94
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations 86
Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review 77
Complex cases with Autism Spectrum Disorder (ASD), developmental delay, hyperactivity and sleep disturbance explained by oligogenic mechanisms 76
Relevance of double-hit mechanisms in patients with Neurodevelopmental Disorders (NDDs): a re-evaluation of 526 patients with non-benign copy number variants (CNVs). 69
Phenotypic Spectrum revealed by two hits model mechanism in Neurodevelopmental Disorder patients with Syndromic and Recurrent CNVs. 67
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases 49
Schimke Immuno-osseous Dysplasia: A Peculiar EEG Pattern 37
Totale 2.607
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Categoria #
all - tutte 10.818
article - articoli 9.098
book - libri 0
conference - conferenze 1.325
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 21.241
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202195 0 0 0 0 0 0 10 25 6 34 9 11
2021/2022243 20 13 2 15 30 19 3 43 18 32 8 40
2022/2023323 28 43 5 26 34 45 5 28 50 2 51 6
2023/2024301 12 20 1 34 13 76 30 17 19 22 27 30
2024/2025689 24 37 9 38 85 65 48 127 33 38 90 95
2025/2026537 154 13 82 101 158 29 0 0 0 0 0 0
Totale 2.607