BETTELLA, ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 1.681
AS - Asia 577
EU - Europa 534
SA - Sud America 144
AF - Africa 132
OC - Oceania 14
Continente sconosciuto - Info sul continente non disponibili 6
Totale 3.088
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Nazione #
US - Stati Uniti d'America 1.608
SG - Singapore 197
IT - Italia 152
CN - Cina 103
BR - Brasile 99
HK - Hong Kong 92
VN - Vietnam 54
DE - Germania 48
SE - Svezia 47
FI - Finlandia 44
PL - Polonia 34
CI - Costa d'Avorio 24
NL - Olanda 23
RU - Federazione Russa 22
FR - Francia 21
UA - Ucraina 15
AT - Austria 14
IN - India 13
CA - Canada 12
GB - Regno Unito 12
JP - Giappone 12
AR - Argentina 11
ES - Italia 9
ZA - Sudafrica 8
CH - Svizzera 7
CO - Colombia 7
CZ - Repubblica Ceca 7
NI - Nicaragua 7
NO - Norvegia 7
TR - Turchia 7
GM - Gambi 6
HT - Haiti 6
IL - Israele 6
JO - Giordania 6
KE - Kenya 6
MX - Messico 6
NP - Nepal 6
SA - Arabia Saudita 6
AU - Australia 5
BS - Bahamas 5
BY - Bielorussia 5
CL - Cile 5
CW - ???statistics.table.value.countryCode.CW??? 5
IE - Irlanda 5
IQ - Iraq 5
KR - Corea 5
LU - Lussemburgo 5
MA - Marocco 5
PE - Perù 5
TZ - Tanzania 5
VE - Venezuela 5
YE - Yemen 5
AE - Emirati Arabi Uniti 4
AL - Albania 4
AZ - Azerbaigian 4
CU - Cuba 4
DZ - Algeria 4
GN - Guinea 4
GT - Guatemala 4
IR - Iran 4
IS - Islanda 4
LB - Libano 4
MD - Moldavia 4
MG - Madagascar 4
NA - Namibia 4
NZ - Nuova Zelanda 4
PA - Panama 4
PS - Palestinian Territory 4
PT - Portogallo 4
PY - Paraguay 4
RS - Serbia 4
UY - Uruguay 4
UZ - Uzbekistan 4
AM - Armenia 3
BB - Barbados 3
BD - Bangladesh 3
BE - Belgio 3
BF - Burkina Faso 3
CM - Camerun 3
CY - Cipro 3
DJ - Gibuti 3
DK - Danimarca 3
EG - Egitto 3
GA - Gabon 3
GP - Guadalupe 3
HU - Ungheria 3
ID - Indonesia 3
KG - Kirghizistan 3
LA - Repubblica Popolare Democratica del Laos 3
LC - Santa Lucia 3
LT - Lituania 3
MK - Macedonia 3
ML - Mali 3
MZ - Mozambico 3
RO - Romania 3
RW - Ruanda 3
SO - Somalia 3
TH - Thailandia 3
ZM - Zambia 3
AD - Andorra 2
Totale 2.998
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Città #
Fairfield 219
Ashburn 156
Woodbridge 143
Chandler 138
Singapore 112
Ann Arbor 108
Houston 101
Seattle 92
Hong Kong 90
Wilmington 73
Cambridge 64
Padova 55
Jacksonville 37
Boardman 32
Beijing 31
Dong Ket 31
Helsinki 29
Bytom 26
Des Moines 26
Princeton 25
Abidjan 24
Santa Clara 22
Medford 18
San Diego 18
Los Angeles 17
Munich 17
Roxbury 16
Ho Chi Minh City 14
Buffalo 13
New York 10
Milan 9
Sant'elena 9
Falls Church 8
Chicago 7
Managua 7
Nuremberg 7
Osaka 7
São Paulo 7
Turku 7
Verona 7
Vienna 7
Amman 6
Amsterdam 6
Cagliari 6
Banjul 5
Belo Horizonte 5
Brooklyn 5
Council Bluffs 5
Dallas 5
Dar es Salaam 5
Dublin 5
Hefei 5
Johannesburg 5
London 5
Nairobi 5
Nanjing 5
Nassau 5
Washington 5
Baku 4
Chisinau 4
Düsseldorf 4
Hebei 4
Kopavogur 4
Lima 4
Norwalk 4
Oslo 4
Panama City 4
Ponzano Veneto 4
Port-au-Prince 4
Tashkent 4
Toronto 4
West Jordan 4
Willemstad 4
Aden 3
Antananarivo 3
Auckland 3
Bangkok 3
Belgrade 3
Bishkek 3
Castries 3
Changsha 3
Chennai 3
Coimbatore 3
Conakry 3
Criciúma 3
Dhaka 3
Djibouti 3
Elk Grove Village 3
Faro 3
Follina 3
Frankfurt am Main 3
Guatemala City 3
Havana 3
Jeddah 3
Jiaxing 3
Kansas City 3
Kathmandu 3
Kigali 3
Kunming 3
Libreville 3
Totale 2.068
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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 264
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 236
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 184
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 183
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 181
Familial Ohtahara syndrome due to a novel ARX gene mutation 180
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders 150
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 150
Genetic variations in the MeCP2 3'UTR and in the ARX gene influence the pathogenesis of neurodevelopmental disorders 146
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 139
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 129
Allele drop out and MECP2 genetic testing 117
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 101
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 97
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge 92
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 90
TRIO variants in individuals with variable intellectual deficits 84
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 83
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 82
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 81
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 80
PPP2R5D variants in patients with variable neurodevelopmental phenotype 79
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 76
Novel CDKL5 splicing variant in a boy with early-onset seizures 70
Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait 49
Totale 3.123
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Categoria #
all - tutte 10.422
article - articoli 7.652
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 18.074
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021388 0 0 0 17 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
2025/2026634 155 174 299 6 0 0 0 0 0 0 0 0
Totale 3.123