BETTELLA, ELISA
 Distribuzione geografica
Continente #
NA - Nord America 1.409
EU - Europa 280
AS - Asia 250
SA - Sud America 6
AF - Africa 2
OC - Oceania 2
Totale 1.949
Nazione #
US - Stati Uniti d'America 1.403
IT - Italia 120
SG - Singapore 97
CN - Cina 87
SE - Svezia 39
VN - Vietnam 39
FI - Finlandia 32
DE - Germania 18
RU - Federazione Russa 17
FR - Francia 16
UA - Ucraina 9
IN - India 8
JP - Giappone 8
CA - Canada 6
NL - Olanda 6
GB - Regno Unito 5
KR - Corea 5
AT - Austria 4
BR - Brasile 4
HK - Hong Kong 4
PL - Polonia 4
CZ - Repubblica Ceca 3
IE - Irlanda 3
NO - Norvegia 2
AR - Argentina 1
AU - Australia 1
CH - Svizzera 1
CL - Cile 1
DZ - Algeria 1
IR - Iran 1
LT - Lituania 1
MY - Malesia 1
NZ - Nuova Zelanda 1
SC - Seychelles 1
Totale 1.949
Città #
Fairfield 219
Woodbridge 143
Chandler 138
Ann Arbor 108
Ashburn 102
Houston 100
Seattle 92
Wilmington 73
Cambridge 64
Singapore 55
Padova 50
Jacksonville 36
Boardman 32
Dong Ket 31
Des Moines 26
Princeton 25
Helsinki 24
Santa Clara 20
Beijing 19
Medford 18
San Diego 18
Roxbury 16
Milan 9
Sant'elena 9
Falls Church 8
Ho Chi Minh City 8
Cagliari 6
Osaka 6
Nanjing 5
Washington 5
Hebei 4
Hong Kong 4
Norwalk 4
Nuremberg 4
Changsha 3
Dublin 3
Follina 3
Jiaxing 3
Kansas City 3
Kunming 3
Los Angeles 3
Moscow 3
Nanchang 3
Parma 3
Radomsko 3
Shanghai 3
Shenyang 3
Venice 3
Amsterdam 2
Bologna 2
Cassville 2
Catania 2
Coimbatore 2
Council Bluffs 2
Falkenstein 2
Fuzhou 2
Gallio 2
Guangzhou 2
Haikou 2
Hefei 2
London 2
Minato-ku 2
Naples 2
Ogden 2
Oslo 2
Sant'Arpino 2
Seoul 2
Stornara 2
Toronto 2
Yeonsu-gu 2
Bakersfield 1
Baoding 1
Belluno 1
Brendola 1
Buffalo 1
Chengdu 1
Chennai 1
Chicago 1
Dallas 1
Eugenópolis 1
Frankfurt am Main 1
Giulianova 1
Hangzhou 1
Indore 1
Ivrea 1
Jinan 1
Katowice 1
Kensington 1
Kilburn 1
Kuala Lumpur 1
Lanzhou 1
Ma'anshan 1
Mesa 1
Mestrino 1
Monte Mor 1
New Glasgow 1
Oran 1
Pohang 1
Pomezia 1
Pune 1
Totale 1.597
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 210
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 190
Familial Ohtahara syndrome due to a novel ARX gene mutation 153
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 148
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 145
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 129
Genetic variations in the MeCP2 3'UTR and in the ARX gene influence the pathogenesis of neurodevelopmental disorders 106
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders 103
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 98
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 88
Allele drop out and MECP2 genetic testing 87
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 73
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. 57
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 50
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 49
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits 48
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 45
PPP2R5D variants in patients with variable neurodevelopmental phenotype 41
Novel CDKL5 splicing variant in a boy with early-onset seizures 38
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 32
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 32
TRIO variants in individuals with variable intellectual deficits 30
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 29
Totale 1.981
Categoria #
all - tutte 7.788
article - articoli 5.784
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 13.572


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020131 0 0 0 0 0 0 0 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
2023/2024184 23 18 27 9 11 18 13 14 5 19 8 19
2024/2025285 26 30 29 36 72 18 59 15 0 0 0 0
Totale 1.981