BETTELLA, ELISA
 Distribuzione geografica
Continente #
NA - Nord America 1.331
EU - Europa 189
AS - Asia 105
SA - Sud America 3
OC - Oceania 1
Totale 1.629
Nazione #
US - Stati Uniti d'America 1.329
IT - Italia 79
CN - Cina 59
SE - Svezia 39
FI - Finlandia 32
VN - Vietnam 31
DE - Germania 13
JP - Giappone 8
UA - Ucraina 8
GB - Regno Unito 4
CZ - Repubblica Ceca 3
IN - India 3
PL - Polonia 3
CA - Canada 2
IE - Irlanda 2
KR - Corea 2
NO - Norvegia 2
AR - Argentina 1
AU - Australia 1
BR - Brasile 1
CH - Svizzera 1
CL - Cile 1
FR - Francia 1
IR - Iran 1
MY - Malesia 1
NL - Olanda 1
RU - Federazione Russa 1
Totale 1.629
Città #
Fairfield 219
Woodbridge 143
Chandler 138
Ann Arbor 108
Houston 100
Ashburn 99
Seattle 92
Wilmington 73
Cambridge 64
Padova 41
Jacksonville 36
Dong Ket 31
Des Moines 26
Princeton 25
Helsinki 24
Medford 18
San Diego 18
Beijing 17
Roxbury 16
Boardman 9
Sant'elena 9
Falls Church 8
Cagliari 6
Osaka 6
Nanjing 5
Washington 5
Hebei 4
Norwalk 4
Changsha 3
Follina 3
Jiaxing 3
Kansas City 3
Kunming 3
Nanchang 3
Radomsko 3
Shenyang 3
Cassville 2
Dublin 2
Falkenstein 2
Fuzhou 2
Hefei 2
London 2
Milan 2
Minato-ku 2
Naples 2
Ogden 2
Oslo 2
Seoul 2
Belluno 1
Brendola 1
Buffalo 1
Chicago 1
Haikou 1
Hangzhou 1
Jinan 1
Kilburn 1
Kuala Lumpur 1
Lanzhou 1
Pune 1
Rome 1
San Mateo 1
Simi Valley 1
Sydney 1
São Paulo 1
Taizhou 1
Tehran 1
Tianjin 1
Toronto 1
Vigonovo 1
Winterthur 1
Zhengzhou 1
Totale 1.415
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 200
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 178
Familial Ohtahara syndrome due to a novel ARX gene mutation 146
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 140
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 134
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 119
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders 91
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 87
Allele drop out and MECP2 genetic testing 80
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 65
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 63
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 49
Genetic variations in the MeCP2 3'UTR and in the ARX gene influence the pathogenesis of neurodevelopmental disorders 49
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 36
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 35
Novel CDKL5 splicing variant in a boy with early-onset seizures 34
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 34
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 26
PPP2R5D variants in patients with variable neurodevelopmental phenotype 26
TRIO variants in individuals with variable intellectual deficits 20
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 19
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 19
Totale 1.650
Categoria #
all - tutte 5.309
article - articoli 4.116
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 9.425


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201958 0 0 0 0 0 0 0 0 3 10 24 21
2019/2020244 21 5 12 11 25 12 27 31 26 33 23 18
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
2023/2024138 23 18 27 9 11 18 13 14 5 0 0 0
Totale 1.650