CINECA IRIS Institutional Research Information System

BELLIGNI, ELGA FABIA
 Distribuzione geografica
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Continente #
NA - Nord America 2.199
EU - Europa 1.857
AS - Asia 585
SA - Sud America 50
OC - Oceania 30
AF - Africa 17
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.739
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Nazione #
US - Stati Uniti d'America 2.128
IT - Italia 779
CN - Cina 303
SE - Svezia 170
IE - Irlanda 130
DE - Germania 126
FR - Francia 113
UA - Ucraina 96
GB - Regno Unito 83
FI - Finlandia 78
AT - Austria 77
CA - Canada 54
SG - Singapore 54
PL - Polonia 53
KR - Corea 50
JP - Giappone 47
BR - Brasile 37
VN - Vietnam 30
AU - Australia 28
IN - India 28
ES - Italia 24
HK - Hong Kong 19
BE - Belgio 18
PT - Portogallo 16
TR - Turchia 16
NL - Olanda 15
RU - Federazione Russa 13
TW - Taiwan 13
DK - Danimarca 10
MX - Messico 10
CZ - Repubblica Ceca 9
AR - Argentina 7
CH - Svizzera 7
GR - Grecia 7
HU - Ungheria 7
RO - Romania 6
CR - Costa Rica 5
IR - Iran 5
NO - Norvegia 5
SI - Slovenia 5
SN - Senegal 5
EG - Egitto 4
IL - Israele 4
BA - Bosnia-Erzegovina 3
NG - Nigeria 3
ZA - Sudafrica 3
AE - Emirati Arabi Uniti 2
CL - Cile 2
EC - Ecuador 2
ID - Indonesia 2
LU - Lussemburgo 2
MV - Maldive 2
NZ - Nuova Zelanda 2
PK - Pakistan 2
RS - Serbia 2
SA - Arabia Saudita 2
TH - Thailandia 2
UZ - Uzbekistan 2
A2 - ???statistics.table.value.countryCode.A2??? 1
BD - Bangladesh 1
BG - Bulgaria 1
BS - Bahamas 1
CO - Colombia 1
DZ - Algeria 1
IS - Islanda 1
MY - Malesia 1
PE - Perù 1
PR - Porto Rico 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
Totale 4.739
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Città #
Chandler 250
Houston 217
Beijing 160
Dublin 125
Ann Arbor 106
Fairfield 106
Torino 104
Ashburn 81
Dearborn 75
Vienna 74
Wilmington 74
Seattle 60
Redwood City 57
Nyköping 52
Woodbridge 52
Villeurbanne 51
Cambridge 41
Jacksonville 40
Milan 39
Princeton 38
Warsaw 37
Rome 35
Singapore 35
Pisa 31
Medford 30
Dong Ket 22
Fremont 21
Helsinki 19
Shanghai 19
Boston 18
Boardman 17
Catania 12
Naples 12
Toronto 12
Nanjing 11
Paris 11
Taipei 11
Florence 10
Los Angeles 10
Brussels 9
Hangzhou 9
Istanbul 9
Ottawa 9
Padova 9
Philadelphia 9
Bari 8
Genoa 8
Jinan 8
New York 8
Cardiff 7
Santa Clara 7
São Paulo 7
Tokyo 7
Turin 7
Washington 7
Woburn 7
Andover 6
Arquata 6
Atlanta 6
Brisbane 6
Calgary 6
Edinburgh 6
Falls Church 6
Hefei 6
Lyndhurst 6
Phoenix 6
Seoul 6
Shenyang 6
Trieste 6
Anderson 5
Austin 5
Central District 5
Chengdu 5
Dallas 5
Kunming 5
Legnano 5
London 5
Lubbock 5
Mumbai 5
New Milton 5
Paderborn 5
Pavia 5
Pescara 5
San Diego 5
Stuttgart 5
Vancouver 5
Verona 5
Barcelona 4
Bothell 4
Brescia 4
Castellammare di Stabia 4
Clarks Summit 4
Evanston 4
Guangzhou 4
Hebei 4
Indianapolis 4
Lyon 4
Melbourne 4
Nagoya 4
Norwalk 4
Totale 2.530
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Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 716
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita 644
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 595
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 472
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 241
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 197
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 153
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability 124
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. 120
A rare craniosynostosis associated with an atypical 22q11 microdeletion 109
Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale 108
Clinical manifestations in a cohort of 32 children with 22q11 deletion syndrome 98
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome 92
Cover Image, Volume 170A, Number 7, July 2016 90
Heterotopic bone formation not related to PHO/FOP disease: a new entity 84
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 83
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability 78
A familial case of DD/ID variable psychiatric phenotype and optic atrophy due to a novel 1,5 Mb deletion on 2q29 77
ARRAY-CGH analysis in 92 children with complex syndromic phenotype 75
A child with macrocephaly: case report of a patient with megalencephalicleukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene. 74
Array-CGH analysis in a patient with Acrocallosal Syndrome 73
An atypical form of progressive extreme heterotopic calcification in a patient with a de novo insertional translocation der(X)ins(X;2)(q26.1;p13.3) 65
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder 65
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation 63
Eyebrow anomalies as a diagnostic sign of genomic disorders 62
ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation 62
Array-CGH: sindromi note, varianti private e nuove sindromi 53
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. 53
Heterotopic bone formation not related to POH/FOP disease: a new entity? 46
Myhre's syndrome in a girl with normal intelligence 42
Progressive extreme heterotopic calcification 38
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 34
Totale 4.886
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Categoria #
all - tutte 10.707
article - articoli 0
book - libri 0
conference - conferenze 3.509
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 14.216
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020722 0 26 39 86 56 211 70 43 47 68 43 33
2020/2021525 40 35 60 38 46 33 57 23 43 38 44 68
2021/2022583 42 23 28 105 28 25 21 26 35 37 118 95
2022/2023792 79 74 28 92 59 171 61 54 74 29 37 34
2023/2024401 43 55 26 25 25 34 27 22 14 28 48 54
2024/202560 32 28 0 0 0 0 0 0 0 0 0 0
Totale 4.886