BETTELLA, ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 2.418
AS - Asia 1.694
EU - Europa 766
SA - Sud America 233
AF - Africa 229
OC - Oceania 23
Continente sconosciuto - Info sul continente non disponibili 8
Totale 5.371
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Nazione #
US - Stati Uniti d'America 2.285
SG - Singapore 481
VN - Vietnam 474
CN - Cina 239
IT - Italia 220
BR - Brasile 146
HK - Hong Kong 140
DE - Germania 57
FI - Finlandia 54
SE - Svezia 53
IN - India 51
FR - Francia 48
BD - Bangladesh 45
PL - Polonia 43
NL - Olanda 34
TR - Turchia 29
JP - Giappone 28
RU - Federazione Russa 27
CA - Canada 26
CI - Costa d'Avorio 26
AR - Argentina 25
GB - Regno Unito 24
AT - Austria 19
UA - Ucraina 19
ES - Italia 18
ZA - Sudafrica 17
MX - Messico 16
KE - Kenya 14
IQ - Iraq 13
BB - Barbados 11
CO - Colombia 11
JO - Giordania 11
MA - Marocco 11
SA - Arabia Saudita 11
UZ - Uzbekistan 11
AU - Australia 10
KG - Kirghizistan 10
NO - Norvegia 10
PE - Perù 10
PK - Pakistan 10
CH - Svizzera 9
CZ - Repubblica Ceca 9
GE - Georgia 9
ID - Indonesia 9
PH - Filippine 9
TZ - Tanzania 9
BY - Bielorussia 8
CL - Cile 8
CM - Camerun 8
DZ - Algeria 8
HT - Haiti 8
NP - Nepal 8
PS - Palestinian Territory 8
RS - Serbia 8
RW - Ruanda 8
VE - Venezuela 8
AM - Armenia 7
AZ - Azerbaigian 7
BJ - Benin 7
DJ - Gibuti 7
GM - Gambi 7
GN - Guinea 7
IE - Irlanda 7
LB - Libano 7
NI - Nicaragua 7
NZ - Nuova Zelanda 7
YE - Yemen 7
AL - Albania 6
BF - Burkina Faso 6
CW - ???statistics.table.value.countryCode.CW??? 6
CY - Cipro 6
DO - Repubblica Dominicana 6
EG - Egitto 6
GT - Guatemala 6
HU - Ungheria 6
IL - Israele 6
IR - Iran 6
IS - Islanda 6
KR - Corea 6
LT - Lituania 6
LU - Lussemburgo 6
MK - Macedonia 6
NA - Namibia 6
PA - Panama 6
PY - Paraguay 6
RO - Romania 6
SK - Slovacchia (Repubblica Slovacca) 6
TH - Thailandia 6
UG - Uganda 6
UY - Uruguay 6
AE - Emirati Arabi Uniti 5
BE - Belgio 5
BS - Bahamas 5
CU - Cuba 5
DK - Danimarca 5
ET - Etiopia 5
GF - Guiana Francese 5
LA - Repubblica Popolare Democratica del Laos 5
MD - Moldavia 5
ME - Montenegro 5
Totale 5.186
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Città #
Ashburn 306
Singapore 283
San Jose 259
Fairfield 219
Woodbridge 143
Chandler 138
Ho Chi Minh City 135
Hong Kong 126
Ann Arbor 110
Houston 106
Hanoi 103
Seattle 96
Wilmington 73
Cambridge 64
Beijing 55
Padova 55
Los Angeles 49
Jacksonville 37
Helsinki 35
New York 34
Boardman 33
Da Nang 31
Dong Ket 31
Des Moines 27
Abidjan 26
Bytom 26
Princeton 25
Santa Clara 25
Buffalo 21
Lauterbourg 21
Medford 18
Milan 18
San Diego 18
Council Bluffs 17
Munich 17
Roxbury 16
Tokyo 15
Chicago 14
Amsterdam 13
Haiphong 13
Frankfurt am Main 12
Orem 12
São Paulo 12
Vienna 12
Nairobi 11
Tashkent 11
Warsaw 11
Amman 10
Bridgetown 10
Hải Dương 10
Johannesburg 10
Montreal 10
Atlanta 9
Bishkek 9
Brooklyn 9
Dar es Salaam 9
Sant'elena 9
Bắc Ninh 8
Chennai 8
Dallas 8
Falls Church 8
Kigali 8
London 8
Osaka 8
Turku 8
Verona 8
Vũng Tàu 8
Belo Horizonte 7
Biên Hòa 7
Cotonou 7
Istanbul 7
Managua 7
Mumbai 7
Nuremberg 7
Padua 7
Rome 7
Stockholm 7
The Dalles 7
Yerevan 7
Baku 6
Belgrade 6
Cagliari 6
Conakry 6
Djibouti 6
Douala 6
Dublin 6
Elk Grove Village 6
Jeddah 6
Kampala 6
Lima 6
Mexico City 6
Oslo 6
Panama City 6
Tbilisi 6
Thái Bình 6
Toronto 6
Tân Tiến 6
Baghdad 5
Bangkok 5
Banjul 5
Totale 3.314
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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 342
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 310
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 291
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 271
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 270
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 260
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 258
Genetic variations in the MeCP2 3'UTR and in the ARX gene influence the pathogenesis of neurodevelopmental disorders 257
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders 237
Familial Ohtahara syndrome due to a novel ARX gene mutation 231
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 229
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 207
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 195
TRIO variants in individuals with variable intellectual deficits 183
PPP2R5D variants in patients with variable neurodevelopmental phenotype 180
Allele drop out and MECP2 genetic testing 174
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 165
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 165
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 165
Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait 158
null 158
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 155
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 152
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 129
Novel CDKL5 splicing variant in a boy with early-onset seizures 111
Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition. 104
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge 51
Totale 5.408
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Categoria #
all - tutte 14.205
article - articoli 10.274
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 24.479
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202143 0 0 0 0 0 0 0 0 0 0 0 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
2025/20262.919 155 174 299 410 246 123 632 216 330 154 180 0
Totale 5.408