PERON, ANGELA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 3.869
AS - Asia 3.721
EU - Europa 1.895
SA - Sud America 514
Continente sconosciuto - Info sul continente non disponibili 101
AF - Africa 73
OC - Oceania 66
Totale 10.239
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 3.738
CN - Cina 1.211
SG - Singapore 941
RU - Federazione Russa 916
IT - Italia 572
HK - Hong Kong 530
BR - Brasile 405
KR - Corea 397
VN - Vietnam 257
IN - India 108
BD - Bangladesh 101
FR - Francia 97
CA - Canada 76
AU - Australia 66
FI - Finlandia 64
IE - Irlanda 49
JP - Giappone 44
GB - Regno Unito 41
AR - Argentina 40
SE - Svezia 34
DE - Germania 33
ID - Indonesia 32
NG - Nigeria 25
MX - Messico 23
NL - Olanda 23
IQ - Iraq 20
EC - Ecuador 19
CO - Colombia 16
PK - Pakistan 16
PL - Polonia 12
BJ - Benin 11
ES - Italia 11
ZA - Sudafrica 10
TR - Turchia 9
UA - Ucraina 9
PE - Perù 8
UZ - Uzbekistan 8
CL - Cile 7
DK - Danimarca 7
IL - Israele 7
MA - Marocco 7
PY - Paraguay 7
VE - Venezuela 7
AE - Emirati Arabi Uniti 5
AT - Austria 5
JM - Giamaica 5
KE - Kenya 5
PR - Porto Rico 5
TT - Trinidad e Tobago 5
AZ - Azerbaigian 4
GT - Guatemala 4
MY - Malesia 4
NI - Nicaragua 4
NP - Nepal 4
PH - Filippine 4
BB - Barbados 3
BO - Bolivia 3
LT - Lituania 3
TN - Tunisia 3
TW - Taiwan 3
AL - Albania 2
BH - Bahrain 2
BZ - Belize 2
DZ - Algeria 2
EG - Egitto 2
ET - Etiopia 2
GR - Grecia 2
HR - Croazia 2
JO - Giordania 2
LB - Libano 2
MD - Moldavia 2
MG - Madagascar 2
PS - Palestinian Territory 2
PT - Portogallo 2
RS - Serbia 2
SV - El Salvador 2
UY - Uruguay 2
AM - Armenia 1
AO - Angola 1
BG - Bulgaria 1
BS - Bahamas 1
CH - Svizzera 1
CI - Costa d'Avorio 1
GN - Guinea 1
HN - Honduras 1
IR - Iran 1
KH - Cambogia 1
LK - Sri Lanka 1
LV - Lettonia 1
MM - Myanmar 1
MT - Malta 1
NO - Norvegia 1
QA - Qatar 1
RO - Romania 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
SY - Repubblica araba siriana 1
UG - Uganda 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 10.139
Salva come PNG Salva come JPEG
Città #
Santa Clara 1.343
Singapore 785
Hefei 581
Hong Kong 525
Ashburn 409
Seoul 396
San Jose 296
Council Bluffs 143
Milan 136
Beijing 97
Ho Chi Minh City 97
Los Angeles 96
Moscow 80
Lauterbourg 71
Chicago 62
Melbourne 62
Rome 60
Hanoi 56
Kent 56
Buffalo 53
Phoenix 53
Dublin 50
Sioux Falls 49
Bengaluru 40
Tokyo 38
New York 37
The Dalles 37
Helsinki 36
Mumbai 35
West Jordan 31
Wapato 30
Naples 29
Lappeenranta 27
São Paulo 27
Abuja 25
Upper Darby 22
Jakarta 19
Houston 18
Shanghai 18
Fairfield 17
Dallas 16
Florence 16
Toronto 16
Bologna 15
Salt Lake City 15
Guangzhou 14
St Louis 14
Fairborn 13
Haiphong 13
Miano 13
Montreal 13
São José de Ribamar 13
Boardman 12
London 12
Orem 12
Seaford 12
Chennai 11
Cotonou 11
Dalmine 11
Paris 11
Porto Alegre 11
Atlanta 10
Mexico City 10
Turin 10
Cambridge 9
Dhaka 9
Miami 9
Rio de Janeiro 9
Seattle 9
Tampa 9
Warsaw 9
Belo Horizonte 8
Brooklyn 8
Elk Grove Village 8
Las Vegas 8
Pittsburgh 8
Thái Nguyên 8
Wilmington 8
Baghdad 7
Boston 7
Brasília 7
Copenhagen 7
Denver 7
Faisalabad 7
Frankfurt am Main 7
Nuremberg 7
Quito 7
Sterling 7
Bari 6
Bergamo 6
Cardiff 6
Córdoba 6
Da Nang 6
Figino 6
Palermo 6
Philadelphia 6
Poplar 6
Reggio Emilia 6
Ribeirão Preto 6
Salvador 6
Totale 6.607
Salva come PNG Salva come JPEG
Nome #
Snyder-Robinson Syndrome 278
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 214
Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder 209
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study 186
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights 178
Women with TSC : Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis 172
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 170
Epilepsy in ring chromosome 20 syndrome 167
Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome 165
Exploring the role of matrix metalloproteinases as biomarkers in sporadic lymphangioleiomyomatosis and tuberous sclerosis complex. A pilot study 163
7p22.1 microduplication syndrome : clinical and molecular characterization of an adult case and review of the literature 159
Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies 158
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature 158
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 158
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 153
Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis : More pathological findings in the same chest CT, or a single pathological pathway? 152
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2 151
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 150
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature 149
Phenotypes in adult patients with Rett syndrome : results of a 13-year experience and insights into healthcare transition 149
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 147
Autism spectrum disorder in tuberous sclerosis complex : searching for risk markers 145
Aortic dilation in Sotos syndrome : an underestimated feature? 142
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 138
Electroclinical findings in DUPXQ28 syndrome 137
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder 137
Prenatal and postnatal findings in five cases of Fryns syndrome 137
Sleep and behavior in children and adolescents with tuberous sclerosis complex 134
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins : a genotype-phenotype analysis 134
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females 132
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions 132
Natural history of adults with KBG syndrome: A physician-reported experience 130
Dramatic relapse of seizures after everolimus withdrawal 130
Current concepts on epilepsy management in tuberous sclerosis complex 130
Medical care of adolescents and women with Rett syndrome : an Italian study 128
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity 127
Epilepsy in adult patients with tuberous sclerosis complex 124
Do patients with tuberous sclerosis complex have an increased risk for malignancies? 124
Genetics, genomics, and genotype–phenotype correlations of TSC : Insights for clinical practice 123
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes 122
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation 121
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19 : the experience of a TSC clinic in Italy 120
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 120
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays 119
The TAND checklist: A useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 118
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype 116
Electroclinical pattern in MECP2 duplication syndrome : eight new reported cases and review of literature 115
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature 114
Snyder-Robinson syndrome : a novel nonsense mutation in spermine synthase and expansion of the phenotype 112
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study 112
Long-term outcome of epilepsy with onset in the first three years of life: findings from a large cohort of patients 111
Hot water epilepsy and SYN1 variants 110
Glioblastoma multiforme in a child with tuberous sclerosis complex 110
Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex 106
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome 104
Lennox-Gastaut syndrome in adulthood : Long-term clinical follow-up of 38 patients and analysis of their recorded seizures 103
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism 102
Snyder-Robinson syndrome : Synonym: Spermine Synthase Deficiency 101
Hot water epilepsy : a video case of European boy with positive family history and subsequent non-reflex epilepsy 101
Ictal signs in tuberous sclerosis complex : clinical and video-EEG features in a large series of recorded seizures 101
Neonatal suppression-burst without epileptic seizures : Expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy 100
Rhinencephalon changes in tuberous sclerosis complex 98
Negative atopy patch test and negative skin prick test reduce the need for oral food challenge in children with atopic dermatitis 96
Interstitial 6q microdeletion syndrome and epilepsy : a new patient and review of the literature 96
BCL11A-Related Intellectual Disability 94
Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures? 92
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy 91
Beyond the Guidelines: How We Can Improve Healthcare for People With Tuberous Sclerosis Complex Around the World 90
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" 90
Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background 89
Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome 88
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature 88
Tuberous sclerosis complex 81
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome 70
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 68
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms 54
Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype 47
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 47
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 47
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 45
The European Certificate in Medical Genetics and Genomics (ECMGG) 44
Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis 41
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 39
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype 38
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants 35
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder 35
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal 34
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood 26
Editorial: Pathogenic mechanisms in neurodevelopmental disorders: advances in cellular models and multi-omics approaches 26
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 19
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases 14
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review 9
Totale 10.239
Salva come PNG Salva come JPEG
Categoria #
all - tutte 29.403
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 29.403
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/202212 0 0 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
2025/20265.217 477 922 907 532 383 112 454 234 260 214 239 483
2026/2027939 377 190 372 0 0 0 0 0 0 0 0 0
Totale 10.239