IRIS
IACOMINO, MICHELE
 Distribuzione geografica
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Continente #
EU - Europa 4.369
AS - Asia 803
NA - Nord America 424
SA - Sud America 91
AF - Africa 10
OC - Oceania 2
Totale 5.699
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Nazione #
IT - Italia 4.243
US - Stati Uniti d'America 407
SG - Singapore 337
CN - Cina 195
VN - Vietnam 163
BR - Brasile 49
HK - Hong Kong 34
FR - Francia 33
DE - Germania 24
AR - Argentina 15
BD - Bangladesh 12
IN - India 11
JP - Giappone 11
FI - Finlandia 10
GB - Regno Unito 10
NL - Olanda 9
IQ - Iraq 8
CA - Canada 7
CH - Svizzera 7
MX - Messico 7
EC - Ecuador 6
CO - Colombia 5
ID - Indonesia 5
IE - Irlanda 5
VE - Venezuela 5
PL - Polonia 4
AE - Emirati Arabi Uniti 3
AT - Austria 3
CL - Cile 3
PE - Perù 3
PK - Pakistan 3
PY - Paraguay 3
RO - Romania 3
RU - Federazione Russa 3
SE - Svezia 3
AL - Albania 2
AU - Australia 2
BH - Bahrain 2
DZ - Algeria 2
ES - Italia 2
GE - Georgia 2
JO - Giordania 2
LC - Santa Lucia 2
LT - Lituania 2
MY - Malesia 2
SA - Arabia Saudita 2
TH - Thailandia 2
TN - Tunisia 2
BG - Bulgaria 1
BO - Bolivia 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
GA - Gabon 1
GM - Gambi 1
HR - Croazia 1
IL - Israele 1
KE - Kenya 1
KG - Kirghizistan 1
KR - Corea 1
LI - Liechtenstein 1
NG - Nigeria 1
NO - Norvegia 1
NP - Nepal 1
OM - Oman 1
PH - Filippine 1
PS - Palestinian Territory 1
SI - Slovenia 1
SY - Repubblica araba siriana 1
UA - Ucraina 1
UY - Uruguay 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 5.699
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Città #
Genoa 2.077
Genova 1.142
Vado Ligure 526
Rapallo 430
Singapore 161
San Jose 116
Ashburn 94
Council Bluffs 50
Ho Chi Minh City 50
Beijing 39
Hanoi 36
Hong Kong 33
Lauterbourg 26
Frankfurt am Main 16
Bordighera 13
New York 13
Haiphong 12
Helsinki 10
Los Angeles 9
Santa Clara 8
Tokyo 8
Hải Dương 7
Milan 7
Chicago 5
Mexico City 5
Zurich 5
Atlanta 4
City of London 4
Da Nang 4
Dublin 4
London 4
Mumbai 4
Quito 4
Tianjin 4
Warsaw 4
Montreal 3
Orem 3
Paris 3
Quảng Ngãi 3
Rome 3
San Francisco 3
Shanghai 3
Stockholm 3
Amman 2
Amsterdam 2
Asunción 2
Belo Horizonte 2
Bogotá 2
Bologna 2
Boston 2
Buffalo 2
Bắc Ninh 2
Cabo Frio 2
Can Tho 2
Caracas 2
Cardiff 2
Casarsa della Delizia 2
Castries 2
Chavannes 2
Chennai 2
Dubai 2
Elk Grove Village 2
Erbil 2
Florence 2
Gazipur 2
Hamburg 2
Islamabad 2
Lima 2
Lấp Vò 2
Marseille 2
Neuwied 2
Nha Trang 2
Ninh Bình 2
Piscataway 2
Potenza 2
Santa Teresa di Riva 2
Santana de Parnaíba 2
Sterling 2
Tbilisi 2
Thái Bình 2
Thái Nguyên 2
Tirana 2
Abu Dhabi 1
Abuja 1
Acalanes Ridge 1
Aguascalientes 1
Ampang 1
Amparo 1
An Giang Province 1
Baghdad 1
Balneário Piçarras 1
Bandung 1
Bangkok 1
Banjul 1
Bayonne 1
Bel Air 1
Bishkek 1
Bogor 1
Bottrop 1
Brasília 1
Totale 5.054
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Nome #
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 233
Clinical and molecular consequences of exon 78 deletion in DMD gene 211
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 178
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features 171
Chiari malformation type I: what information from the genetics? 163
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 153
White matter involvement in a family with a novel PDGFB mutation 151
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation 148
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 148
IDENTIFICAZIONE DI NUOVI GENI RESPONSABILI DI MALATTIE RARE DEL NEUROSVILUPPO TRAMITE HOMOZYGOSITY MAPPING E/O SEQUENZIAMENTO DI NUOVA GENERAZIONE 148
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 145
Exome sequencing fails to identify the genetic cause of Aicardi syndrome 139
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs 134
Alterations in the alfa(2) gamma ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies 133
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 131
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia 130
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 129
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 116
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 116
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 114
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 113
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 108
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 104
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 104
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 103
Distal motor neuropathy associated with novel EMILIN1 mutation 102
Novel GABRG2 mutations cause familial febrile seizures 101
Novel TRIM32 mutation in sarcotubular myopathy 100
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders 96
De novo variants in DENND5B cause a neurodevelopmental disorder 94
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 91
Vesicular glutamate release from feeder-free hiPSC-derived neurons 91
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome 85
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 85
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 82
De novo GRIN2A variants associated with epilepsy and autism and literature review 78
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 78
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 75
Novel biallelic variants expand the phenotype of NAA20-related syndrome 75
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 73
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 72
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia 71
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 71
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children 71
Expanding the phenotype associated with biallelic SLC20A2 variants 70
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 70
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 70
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 60
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing 58
Hydranencephaly in CENPJ-related Seckel syndrome 57
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 50
An interconnected data infrastructure to support large-scale rare disease research 50
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 37
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review 29
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 27
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data 27
Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy 25
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder 23
Exome sequencing data screening to identify undiagnosed Aromatic L-amino acid decarboxylase deficiency in neurodevelopmental disorders 22
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 21
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 12
Totale 5.822
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Categoria #
all - tutte 21.235
article - articoli 20.847
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 42.082
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202180 0 0 0 0 0 0 0 0 0 44 24 12
2021/2022382 23 12 16 25 26 20 29 69 35 52 30 45
2022/2023519 40 54 14 54 85 61 6 43 72 2 77 11
2023/2024401 25 28 10 52 40 79 25 25 17 15 34 51
2024/20251.487 56 77 38 108 158 149 159 262 105 80 161 134
2025/20262.198 295 46 210 218 346 188 329 137 236 193 0 0
Totale 5.822