PERON, ANGELA
 Distribuzione geografica
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Continente #
AS - Asia 3.191
NA - Nord America 2.438
EU - Europa 1.265
SA - Sud America 477
OC - Oceania 64
AF - Africa 41
Totale 7.476
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Nazione #
US - Stati Uniti d'America 2.397
CN - Cina 1.065
RU - Federazione Russa 912
SG - Singapore 876
HK - Hong Kong 490
KR - Corea 397
BR - Brasile 390
VN - Vietnam 152
IT - Italia 111
IN - India 90
AU - Australia 64
FI - Finlandia 53
IE - Irlanda 47
AR - Argentina 36
ID - Indonesia 27
DE - Germania 23
MX - Messico 20
IQ - Iraq 19
NL - Olanda 19
BD - Bangladesh 18
EC - Ecuador 17
GB - Regno Unito 17
JP - Giappone 17
CA - Canada 15
FR - Francia 13
SE - Svezia 13
PL - Polonia 12
BJ - Benin 11
ES - Italia 11
CO - Colombia 10
UA - Ucraina 8
ZA - Sudafrica 8
DK - Danimarca 7
IL - Israele 6
MA - Marocco 6
PE - Perù 6
PK - Pakistan 6
PY - Paraguay 6
TR - Turchia 6
AT - Austria 5
CL - Cile 5
UZ - Uzbekistan 4
VE - Venezuela 4
KE - Kenya 3
TN - Tunisia 3
AE - Emirati Arabi Uniti 2
AZ - Azerbaigian 2
BB - Barbados 2
DZ - Algeria 2
EG - Egitto 2
JM - Giamaica 2
JO - Giordania 2
LT - Lituania 2
MD - Moldavia 2
NP - Nepal 2
RS - Serbia 2
TW - Taiwan 2
UY - Uruguay 2
AL - Albania 1
AM - Armenia 1
AO - Angola 1
BG - Bulgaria 1
BH - Bahrain 1
BO - Bolivia 1
CH - Svizzera 1
CI - Costa d'Avorio 1
ET - Etiopia 1
GN - Guinea 1
GT - Guatemala 1
HN - Honduras 1
IR - Iran 1
KH - Cambogia 1
LB - Libano 1
LK - Sri Lanka 1
LV - Lettonia 1
MG - Madagascar 1
MT - Malta 1
NO - Norvegia 1
PH - Filippine 1
PS - Palestinian Territory 1
PT - Portogallo 1
RO - Romania 1
UG - Uganda 1
Totale 7.476
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Città #
Santa Clara 1.325
Singapore 727
Hefei 579
Hong Kong 488
Seoul 396
Ashburn 171
San Jose 115
Beijing 85
Moscow 80
Los Angeles 71
Melbourne 61
Ho Chi Minh City 59
Kent 56
Chicago 53
Dublin 47
Buffalo 43
Bengaluru 40
Helsinki 35
Mumbai 34
West Jordan 31
Hanoi 28
São Paulo 27
The Dalles 21
Jakarta 18
Milan 18
Fairfield 17
Lappeenranta 17
Shanghai 16
Salt Lake City 13
São José de Ribamar 13
Tokyo 13
Cotonou 11
Dallas 11
Porto Alegre 11
Guangzhou 10
New York 10
Rome 10
Houston 9
Rio de Janeiro 9
Warsaw 9
Belo Horizonte 8
Elk Grove Village 8
Mexico City 8
Wilmington 8
Baghdad 7
Cambridge 7
Copenhagen 7
Dhaka 7
Quito 7
Seattle 7
Sterling 7
Brooklyn 6
Haiphong 6
Nuremberg 6
Phoenix 6
Poplar 6
Salvador 6
Tampa 6
Thái Nguyên 6
Boston 5
Córdoba 5
Goiânia 5
Miami 5
Montreal 5
Naples 5
Ninh Bình 5
Paris 5
Ribeirão Preto 5
Woodbridge 5
Barcelona 4
Brasília 4
Chennai 4
Denver 4
Florence 4
Guayaquil 4
Lima 4
Osasco 4
Querétaro 4
São Luís 4
Tây Ninh 4
Yubileyny 4
Americana 3
Amsterdam 3
Atlanta 3
Bauru 3
Berazategui 3
Boardman 3
Bologna 3
Bắc Ninh 3
Campinas 3
Campo Grande 3
Contagem 3
Council Bluffs 3
Curitiba 3
Dulles 3
Duque de Caxias 3
Falkenstein 3
Frankfurt am Main 3
Guarulhos 3
Hải Dương 3
Totale 5.071
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Nome #
Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder 181
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 181
Women with TSC : Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis 153
Epilepsy in ring chromosome 20 syndrome 141
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature 134
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature 133
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study 132
Exploring the role of matrix metalloproteinases as biomarkers in sporadic lymphangioleiomyomatosis and tuberous sclerosis complex. A pilot study 131
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 131
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 130
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 128
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights 128
Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition 126
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 126
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis : More pathological findings in the same chest CT, or a single pathological pathway? 124
Aortic dilation in Sotos syndrome : an underestimated feature? 124
Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers 122
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins : a genotype-phenotype analysis 118
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder 117
Electroclinical findings in DUPXQ28 syndrome 116
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature 116
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 116
Prenatal and postnatal findings in five cases of Fryns syndrome 116
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 116
Sleep and behavior in children and adolescents with tuberous sclerosis complex 114
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 114
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 112
Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature 111
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome 110
Medical care of adolescents and women with Rett syndrome : an Italian study 107
Genetics, genomics, and genotype–phenotype correlations of TSC : Insights for clinical practice 107
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy 106
Natural history of adults with KBG syndrome: A physician-reported experience 101
Dramatic relapse of seizures after everolimus withdrawal 101
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation 101
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature 100
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions 100
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays 99
The TAND checklist: A useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 99
Current concepts on epilepsy management in tuberous sclerosis complex 99
Epilepsy in adult patients with tuberous sclerosis complex 97
Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature 97
Snyder-Robinson syndrome : a novel nonsense mutation in spermine synthase and expansion of the phenotype 97
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 96
Long-term outcome of epilepsy with onset in the first three years of life: findings from a large cohort of patients 93
Glioblastoma multiforme in a child with tuberous sclerosis complex 93
Hot water epilepsy and SYN1 variants 90
Rhinencephalon changes in tuberous sclerosis complex 90
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes 90
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 90
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study 90
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism 89
Snyder-Robinson syndrome : Synonym: Spermine Synthase Deficiency 88
Do patients with tuberous sclerosis complex have an increased risk for malignancies? 88
Neonatal suppression-burst without epileptic seizures : Expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy 86
Hot water epilepsy : a video case of European boy with positive family history and subsequent non-reflex epilepsy 86
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 86
Interstitial 6q microdeletion syndrome and epilepsy : a new patient and review of the literature 82
Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex 82
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity 81
Negative atopy patch test and negative skin prick test reduce the need for oral food challenge in children with atopic dermatitis 80
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy 80
Lennox-Gastaut syndrome in adulthood : Long-term clinical follow-up of 38 patients and analysis of their recorded seizures 80
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World 76
Corrigendum to "Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Am J Med Genet 2013, 161A: 2316-2320" 76
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome 74
Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures? 71
Ictal signs in tuberous sclerosis complex : clinical and video-EEG features in a large series of recorded seizures 70
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature 68
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background 67
Tuberous sclerosis complex 65
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 32
BCL11A-Related Intellectual Disability 22
Snyder-Robinson Syndrome 13
Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype 12
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms 9
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 9
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome 8
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 8
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 7
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants 6
The European Certificate in Medical Genetics and Genomics (ECMGG) 6
Editorial: Pathogenic mechanisms in neurodevelopmental disorders: advances in cellular models and multi-omics approaches 6
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype 5
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 4
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder 3
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal 2
Totale 7.571
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Categoria #
all - tutte 21.869
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 21.869
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202111 0 0 0 0 0 0 0 1 0 1 1 8
2021/202215 1 2 0 0 3 0 0 1 1 0 2 5
2022/202325 5 6 2 1 1 4 5 0 1 0 0 0
2023/2024393 0 1 2 5 83 40 7 158 11 60 13 13
2024/20253.602 63 282 158 388 938 649 52 262 109 173 253 275
2025/20263.488 477 922 907 532 383 112 155 0 0 0 0 0
Totale 7.571