BETTELLA, ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 1.520
AS - Asia 423
EU - Europa 422
SA - Sud America 91
AF - Africa 39
OC - Oceania 4
Totale 2.499
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Nazione #
US - Stati Uniti d'America 1.500
SG - Singapore 173
IT - Italia 148
CN - Cina 88
BR - Brasile 82
HK - Hong Kong 74
DE - Germania 47
FI - Finlandia 43
SE - Svezia 40
VN - Vietnam 40
PL - Polonia 29
CI - Costa d'Avorio 22
FR - Francia 20
NL - Olanda 20
RU - Federazione Russa 20
IN - India 12
GB - Regno Unito 11
CA - Canada 10
AT - Austria 9
JP - Giappone 9
UA - Ucraina 9
KR - Corea 5
CZ - Repubblica Ceca 4
ZA - Sudafrica 4
BD - Bangladesh 3
CH - Svizzera 3
ES - Italia 3
IE - Irlanda 3
MX - Messico 3
PT - Portogallo 3
AR - Argentina 2
AU - Australia 2
BF - Burkina Faso 2
CL - Cile 2
DJ - Gibuti 2
IQ - Iraq 2
IR - Iran 2
JO - Giordania 2
KE - Kenya 2
LT - Lituania 2
MA - Marocco 2
MY - Malesia 2
NO - Norvegia 2
RO - Romania 2
TR - Turchia 2
UZ - Uzbekistan 2
VE - Venezuela 2
AL - Albania 1
AM - Armenia 1
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BE - Belgio 1
BS - Bahamas 1
CG - Congo 1
DZ - Algeria 1
EC - Ecuador 1
ET - Etiopia 1
GF - Guiana Francese 1
GP - Guadalupe 1
HN - Honduras 1
HT - Haiti 1
ID - Indonesia 1
IL - Israele 1
KG - Kirghizistan 1
LB - Libano 1
MD - Moldavia 1
MQ - Martinica 1
NA - Namibia 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
PF - Polinesia Francese 1
PR - Porto Rico 1
PY - Paraguay 1
SC - Seychelles 1
TJ - Tagikistan 1
Totale 2.499
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Città #
Fairfield 219
Woodbridge 143
Chandler 138
Ashburn 110
Ann Arbor 108
Houston 101
Singapore 95
Seattle 92
Hong Kong 74
Wilmington 73
Cambridge 64
Padova 55
Jacksonville 37
Boardman 32
Dong Ket 31
Helsinki 28
Des Moines 26
Princeton 25
Bytom 23
Abidjan 22
Santa Clara 22
Beijing 20
Medford 18
San Diego 18
Munich 17
Roxbury 16
Ho Chi Minh City 9
Los Angeles 9
Milan 9
Sant'elena 9
Falls Church 8
Turku 7
Verona 7
Cagliari 6
Nuremberg 6
Osaka 6
São Paulo 6
Belo Horizonte 5
Buffalo 5
Nanjing 5
Washington 5
Amsterdam 4
Dallas 4
Düsseldorf 4
Hebei 4
London 4
Norwalk 4
Ponzano Veneto 4
Toronto 4
Vienna 4
West Jordan 4
Changsha 3
Chicago 3
Coimbatore 3
Dhaka 3
Dublin 3
Faro 3
Follina 3
Frankfurt am Main 3
Jiaxing 3
Johannesburg 3
Kansas City 3
Kunming 3
Moscow 3
Nanchang 3
New York 3
Parma 3
Radomsko 3
Shanghai 3
Shenyang 3
Venice 3
Amman 2
Atlanta 2
Bologna 2
Boston 2
Brooklyn 2
Cassville 2
Catania 2
Chennai 2
Codognè 2
Council Bluffs 2
Djibouti 2
Falkenstein 2
Formiga 2
Fuzhou 2
Gallio 2
Guangzhou 2
Haikou 2
Hefei 2
Manaus 2
Minato-ku 2
Montreal 2
Nairobi 2
Naples 2
Ogden 2
Oslo 2
Recife 2
Rio de Janeiro 2
Rome 2
Salt Lake City 2
Totale 1.867
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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 240
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 210
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 163
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 162
Familial Ohtahara syndrome due to a novel ARX gene mutation 160
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 158
Genetic variations in the MeCP2 3'UTR and in the ARX gene influence the pathogenesis of neurodevelopmental disorders 134
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 124
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders 120
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 113
Allele drop out and MECP2 genetic testing 106
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 94
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 82
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 72
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 71
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 66
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 64
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 63
PPP2R5D variants in patients with variable neurodevelopmental phenotype 61
TRIO variants in individuals with variable intellectual deficits 58
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 54
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 52
Novel CDKL5 splicing variant in a boy with early-onset seizures 50
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge 37
Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait 20
Totale 2.534
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Categoria #
all - tutte 9.345
article - articoli 6.888
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 16.233
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021434 17 14 15 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
2025/202645 45 0 0 0 0 0 0 0 0 0 0 0
Totale 2.534