PERON, ANGELA
 Distribuzione geografica
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Continente #
AS - Asia 3.622
NA - Nord America 2.919
EU - Europa 1.449
SA - Sud America 501
AF - Africa 73
OC - Oceania 66
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.631
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Nazione #
US - Stati Uniti d'America 2.859
CN - Cina 1.203
SG - Singapore 938
RU - Federazione Russa 916
HK - Hong Kong 528
BR - Brasile 400
KR - Corea 397
VN - Vietnam 256
IT - Italia 160
IN - India 105
FR - Francia 94
AU - Australia 66
FI - Finlandia 64
IE - Irlanda 49
JP - Giappone 43
AR - Argentina 40
GB - Regno Unito 35
BD - Bangladesh 34
DE - Germania 32
ID - Indonesia 29
CA - Canada 28
NG - Nigeria 25
MX - Messico 22
NL - Olanda 22
IQ - Iraq 20
EC - Ecuador 17
PK - Pakistan 16
SE - Svezia 14
CO - Colombia 12
PL - Polonia 12
BJ - Benin 11
ES - Italia 11
ZA - Sudafrica 10
UA - Ucraina 9
PE - Perù 8
TR - Turchia 8
UZ - Uzbekistan 8
CL - Cile 7
DK - Danimarca 7
MA - Marocco 7
PY - Paraguay 7
IL - Israele 6
VE - Venezuela 6
AT - Austria 5
KE - Kenya 5
AE - Emirati Arabi Uniti 4
AZ - Azerbaigian 4
NP - Nepal 3
PH - Filippine 3
TN - Tunisia 3
TW - Taiwan 3
AL - Albania 2
BB - Barbados 2
BH - Bahrain 2
BO - Bolivia 2
DZ - Algeria 2
EG - Egitto 2
ET - Etiopia 2
GR - Grecia 2
GT - Guatemala 2
JM - Giamaica 2
JO - Giordania 2
LT - Lituania 2
MD - Moldavia 2
MG - Madagascar 2
PS - Palestinian Territory 2
PT - Portogallo 2
RS - Serbia 2
UY - Uruguay 2
AM - Armenia 1
AO - Angola 1
BG - Bulgaria 1
CH - Svizzera 1
CI - Costa d'Avorio 1
GN - Guinea 1
HN - Honduras 1
IR - Iran 1
KH - Cambogia 1
LB - Libano 1
LK - Sri Lanka 1
LV - Lettonia 1
MT - Malta 1
MY - Malesia 1
NI - Nicaragua 1
NO - Norvegia 1
QA - Qatar 1
RO - Romania 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TT - Trinidad e Tobago 1
UG - Uganda 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 8.631
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Città #
Santa Clara 1.332
Singapore 782
Hefei 581
Hong Kong 523
Seoul 396
Ashburn 334
San Jose 183
Ho Chi Minh City 96
Beijing 93
Council Bluffs 81
Moscow 80
Los Angeles 76
Lauterbourg 71
Melbourne 61
Chicago 56
Hanoi 56
Kent 56
Dublin 50
Buffalo 46
Bengaluru 40
Tokyo 37
Helsinki 36
The Dalles 35
Mumbai 34
New York 31
West Jordan 31
Lappeenranta 27
São Paulo 27
Abuja 25
Milan 22
Rome 22
Jakarta 19
Fairfield 17
Shanghai 17
Guangzhou 14
Salt Lake City 14
Dallas 13
Haiphong 13
São José de Ribamar 13
Chennai 11
Cotonou 11
Orem 11
Porto Alegre 11
Houston 10
Montreal 10
Phoenix 10
Dhaka 9
London 9
Mexico City 9
Rio de Janeiro 9
Warsaw 9
Belo Horizonte 8
Elk Grove Village 8
Thái Nguyên 8
Wilmington 8
Baghdad 7
Brooklyn 7
Cambridge 7
Copenhagen 7
Faisalabad 7
Florence 7
Frankfurt am Main 7
Naples 7
Nuremberg 7
Paris 7
Quito 7
Seattle 7
Sterling 7
Boston 6
Cardiff 6
Córdoba 6
Da Nang 6
Poplar 6
Ribeirão Preto 6
Salvador 6
Tampa 6
Tashkent 6
Atlanta 5
Bắc Ninh 5
Denver 5
Goiânia 5
Lima 5
Miami 5
Ninh Bình 5
Querétaro 5
Thái Bình 5
Toronto 5
Woodbridge 5
Baku 4
Barcelona 4
Bologna 4
Brasília 4
Curitiba 4
Guarulhos 4
Guayaquil 4
Hải Dương 4
Johannesburg 4
Lawrence 4
Nairobi 4
Osasco 4
Totale 5.839
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Nome #
Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder 201
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 196
Women with TSC : Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis 164
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights 156
Epilepsy in ring chromosome 20 syndrome 153
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature 152
Exploring the role of matrix metalloproteinases as biomarkers in sporadic lymphangioleiomyomatosis and tuberous sclerosis complex. A pilot study 149
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study 149
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 148
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature 143
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 140
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 138
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis : More pathological findings in the same chest CT, or a single pathological pathway? 137
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 137
Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers 135
Aortic dilation in Sotos syndrome : an underestimated feature? 135
Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition 134
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 134
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 133
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature 132
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 132
Electroclinical findings in DUPXQ28 syndrome 130
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins : a genotype-phenotype analysis 128
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder 127
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 127
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 126
Sleep and behavior in children and adolescents with tuberous sclerosis complex 124
Prenatal and postnatal findings in five cases of Fryns syndrome 121
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome 120
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions 117
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy 116
Current concepts on epilepsy management in tuberous sclerosis complex 116
Natural history of adults with KBG syndrome: A physician-reported experience 115
Dramatic relapse of seizures after everolimus withdrawal 115
Medical care of adolescents and women with Rett syndrome : an Italian study 113
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes 112
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation 112
Epilepsy in adult patients with tuberous sclerosis complex 111
Genetics, genomics, and genotype–phenotype correlations of TSC : Insights for clinical practice 111
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature 110
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays 109
The TAND checklist: A useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 109
Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature 109
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity 107
Glioblastoma multiforme in a child with tuberous sclerosis complex 104
Snyder-Robinson syndrome : a novel nonsense mutation in spermine synthase and expansion of the phenotype 103
Long-term outcome of epilepsy with onset in the first three years of life: findings from a large cohort of patients 102
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 101
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 99
Hot water epilepsy and SYN1 variants 97
Do patients with tuberous sclerosis complex have an increased risk for malignancies? 97
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 97
Snyder-Robinson syndrome : Synonym: Spermine Synthase Deficiency 96
Hot water epilepsy : a video case of European boy with positive family history and subsequent non-reflex epilepsy 96
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study 96
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism 95
Rhinencephalon changes in tuberous sclerosis complex 94
Neonatal suppression-burst without epileptic seizures : Expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy 94
Negative atopy patch test and negative skin prick test reduce the need for oral food challenge in children with atopic dermatitis 91
Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex 91
Interstitial 6q microdeletion syndrome and epilepsy : a new patient and review of the literature 89
Lennox-Gastaut syndrome in adulthood : Long-term clinical follow-up of 38 patients and analysis of their recorded seizures 88
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World 85
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy 83
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome 82
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" 81
Ictal signs in tuberous sclerosis complex : clinical and video-EEG features in a large series of recorded seizures 79
Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures? 79
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background 79
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature 78
Tuberous sclerosis complex 70
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 55
BCL11A-Related Intellectual Disability 54
Snyder-Robinson Syndrome 45
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 40
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome 32
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms 30
Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype 27
The European Certificate in Medical Genetics and Genomics (ECMGG) 24
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 24
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 24
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 23
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants 19
Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis 17
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype 17
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder 17
Editorial: Pathogenic mechanisms in neurodevelopmental disorders: advances in cellular models and multi-omics approaches 15
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal 12
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood 9
Marked hepatic fibrosis with progression towards cirrhosis in generalized arterial calcification of infancy: an unreported association observed in a case carryng a novel ENPP1 variant 8
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases 5
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review 5
Totale 8.731
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Categoria #
all - tutte 24.484
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 24.484
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20219 0 0 0 0 0 0 0 0 0 0 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
2025/20264.648 477 922 907 532 383 112 454 234 260 214 153 0
Totale 8.731