BETTELLA, ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 1.817
AS - Asia 858
EU - Europa 611
AF - Africa 204
SA - Sud America 192
OC - Oceania 21
Continente sconosciuto - Info sul continente non disponibili 8
Totale 3.711
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Nazione #
US - Stati Uniti d'America 1.709
SG - Singapore 331
IT - Italia 159
CN - Cina 141
BR - Brasile 122
HK - Hong Kong 98
VN - Vietnam 87
FI - Finlandia 50
SE - Svezia 50
DE - Germania 49
PL - Polonia 35
NL - Olanda 30
CI - Costa d'Avorio 25
RU - Federazione Russa 23
FR - Francia 22
IN - India 20
UA - Ucraina 19
AR - Argentina 18
CA - Canada 18
AT - Austria 16
GB - Regno Unito 15
ES - Italia 14
JP - Giappone 14
MX - Messico 13
KE - Kenya 12
TR - Turchia 12
BB - Barbados 10
PE - Perù 10
ZA - Sudafrica 10
CH - Svizzera 9
CO - Colombia 9
KG - Kirghizistan 9
NO - Norvegia 9
TZ - Tanzania 9
AU - Australia 8
CM - Camerun 8
CZ - Repubblica Ceca 8
JO - Giordania 8
MA - Marocco 8
RW - Ruanda 8
UZ - Uzbekistan 8
BJ - Benin 7
BY - Bielorussia 7
DZ - Algeria 7
GN - Guinea 7
HT - Haiti 7
NI - Nicaragua 7
NP - Nepal 7
NZ - Nuova Zelanda 7
PS - Palestinian Territory 7
RS - Serbia 7
SA - Arabia Saudita 7
VE - Venezuela 7
YE - Yemen 7
AZ - Azerbaigian 6
CL - Cile 6
CW - ???statistics.table.value.countryCode.CW??? 6
CY - Cipro 6
GE - Georgia 6
GM - Gambi 6
GT - Guatemala 6
IE - Irlanda 6
IL - Israele 6
IQ - Iraq 6
IR - Iran 6
IS - Islanda 6
KR - Corea 6
LB - Libano 6
LU - Lussemburgo 6
MK - Macedonia 6
NA - Namibia 6
PY - Paraguay 6
UG - Uganda 6
UY - Uruguay 6
AL - Albania 5
AM - Armenia 5
BS - Bahamas 5
CU - Cuba 5
DJ - Gibuti 5
DK - Danimarca 5
EG - Egitto 5
ID - Indonesia 5
MG - Madagascar 5
MN - Mongolia 5
MR - Mauritania 5
MZ - Mozambico 5
RO - Romania 5
SK - Slovacchia (Repubblica Slovacca) 5
ZW - Zimbabwe 5
AE - Emirati Arabi Uniti 4
AO - Angola 4
BD - Bangladesh 4
BE - Belgio 4
BF - Burkina Faso 4
EE - Estonia 4
GF - Guiana Francese 4
GP - Guadalupe 4
HU - Ungheria 4
LA - Repubblica Popolare Democratica del Laos 4
MD - Moldavia 4
Totale 3.563
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Città #
Fairfield 219
Ashburn 196
Singapore 159
Woodbridge 143
Chandler 138
Ann Arbor 108
Houston 104
Hong Kong 95
Seattle 94
Wilmington 73
Cambridge 64
Padova 55
Beijing 50
Jacksonville 37
Boardman 32
Dong Ket 31
Helsinki 31
Bytom 26
Des Moines 26
Los Angeles 26
Abidjan 25
Ho Chi Minh City 25
Princeton 25
Santa Clara 24
Medford 18
San Diego 18
Munich 17
Roxbury 16
Buffalo 15
New York 15
Hanoi 12
Amsterdam 11
Chicago 11
Milan 10
Nairobi 10
Bridgetown 9
Dar es Salaam 9
Sant'elena 9
Vienna 9
Amman 8
Bishkek 8
Falls Church 8
Kigali 8
São Paulo 8
Tashkent 8
Turku 8
Cotonou 7
Managua 7
Nuremberg 7
Osaka 7
Verona 7
Brooklyn 6
Cagliari 6
Conakry 6
Douala 6
Elk Grove Village 6
Johannesburg 6
Kampala 6
Lima 6
Montreal 6
Baku 5
Banjul 5
Belgrade 5
Belo Horizonte 5
Council Bluffs 5
Dallas 5
Djibouti 5
Dublin 5
Harare 5
Hefei 5
London 5
Nanjing 5
Nassau 5
Nouakchott 5
Oslo 5
Stockholm 5
Tbilisi 5
Toronto 5
Ulan Bator 5
Washington 5
Willemstad 5
Yerevan 5
Antananarivo 4
Atlanta 4
Auckland 4
Bangkok 4
Changsha 4
Chennai 4
Chisinau 4
Düsseldorf 4
Frankfurt am Main 4
Hebei 4
Irati 4
Kathmandu 4
Kingstown 4
Kopavogur 4
Luxembourg 4
Maputo 4
Melbourne 4
Minsk 4
Totale 2.322
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Nome #
A PATHOGENIC ROLE OF THE X-LINKED CYCLIN-DEPENDENT KINASE-LIKE 5 AND ARISTALESS-RELATED HOMEOBOX GENES IN EPILEPTIC ENCEPHALOPATHY OF UNKNOWN ETIOLOGY WITH ONSET IN THE FIRST YEAR OF LIFE 289
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 260
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 219
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members 207
Familial Ohtahara syndrome due to a novel ARX gene mutation 205
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 202
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 179
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders 175
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 170
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 168
Genetic variations in the MeCP2 3'UTR and in the ARX gene influence the pathogenesis of neurodevelopmental disorders 158
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge 143
Allele drop out and MECP2 genetic testing 135
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 118
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 115
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 112
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 110
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 110
TRIO variants in individuals with variable intellectual deficits 101
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 101
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 101
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 97
PPP2R5D variants in patients with variable neurodevelopmental phenotype 96
Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait 83
Novel CDKL5 splicing variant in a boy with early-onset seizures 78
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition. 15
Totale 3.747
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Categoria #
all - tutte 11.469
article - articoli 8.426
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 19.895
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021371 0 0 0 0 12 16 4 18 25 98 155 43
2021/2022303 13 43 19 27 38 25 12 18 10 7 24 67
2022/2023266 43 51 9 24 37 36 0 21 28 2 13 2
2023/2024184 23 18 27 9 11 18 13 14 5 19 8 19
2024/2025793 26 30 29 36 72 18 59 60 82 46 152 183
2025/20261.258 155 174 299 410 220 0 0 0 0 0 0 0
Totale 3.747