CINECA IRIS Institutional Research Information System

CALCIA, ALESSANDRO
 Distribuzione geografica
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Continente #
NA - Nord America 2.429
EU - Europa 1.576
AS - Asia 679
SA - Sud America 58
OC - Oceania 41
AF - Africa 16
Totale 4.799
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Nazione #
US - Stati Uniti d'America 2.335
IT - Italia 458
CN - Cina 302
DE - Germania 204
FR - Francia 133
SE - Svezia 126
AT - Austria 121
SG - Singapore 116
IE - Irlanda 96
GB - Regno Unito 85
JP - Giappone 80
CA - Canada 73
FI - Finlandia 60
UA - Ucraina 49
ES - Italia 47
BR - Brasile 43
PL - Polonia 39
AU - Australia 38
KR - Corea 34
IN - India 33
VN - Vietnam 27
BE - Belgio 24
DK - Danimarca 21
TR - Turchia 21
HK - Hong Kong 19
NL - Olanda 18
PT - Portogallo 15
RU - Federazione Russa 13
TW - Taiwan 13
MX - Messico 12
CZ - Repubblica Ceca 11
GR - Grecia 11
ID - Indonesia 11
AR - Argentina 8
SN - Senegal 8
HU - Ungheria 7
RO - Romania 7
CR - Costa Rica 6
IR - Iran 6
NO - Norvegia 6
SI - Slovenia 6
BA - Bosnia-Erzegovina 5
IL - Israele 5
CH - Svizzera 4
CO - Colombia 3
NG - Nigeria 3
NZ - Nuova Zelanda 3
RS - Serbia 3
ZA - Sudafrica 3
AE - Emirati Arabi Uniti 2
CL - Cile 2
LU - Lussemburgo 2
ME - Montenegro 2
PK - Pakistan 2
SA - Arabia Saudita 2
TH - Thailandia 2
UZ - Uzbekistan 2
BD - Bangladesh 1
BG - Bulgaria 1
BS - Bahamas 1
DZ - Algeria 1
EC - Ecuador 1
EE - Estonia 1
HN - Honduras 1
MY - Malesia 1
PE - Perù 1
PR - Porto Rico 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
Totale 4.799
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Città #
Chandler 217
Houston 206
Ann Arbor 149
Fairfield 137
Beijing 134
Vienna 116
Torino 114
Ashburn 95
Dublin 92
Singapore 88
Wilmington 84
Redwood City 82
Woodbridge 76
Seattle 68
Dearborn 63
Cambridge 60
Villeurbanne 46
Nyköping 42
Pisa 38
Fremont 29
Jacksonville 29
Warsaw 28
Shanghai 25
Milan 24
Paris 24
Santa Clara 24
Medford 23
Columbus 22
Princeton 22
Washington 19
Boardman 18
Tokyo 18
Ottawa 17
Nanjing 16
Helsinki 15
Istanbul 14
Genoa 13
Toronto 13
Dong Ket 12
Munich 12
New York 12
Turin 12
Jakarta 11
Taipei 11
Boston 10
Guangzhou 10
Kunming 10
Los Angeles 10
Padova 10
Rome 10
São Paulo 10
Barcelona 9
Edinburgh 9
Florence 9
Philadelphia 9
Brussels 8
Hangzhou 8
Calgary 7
Cardiff 7
Jinan 7
Lyndhurst 7
Nagoya 7
Nürnberg 7
San Diego 7
Woburn 7
Arquata 6
Brisbane 6
Dallas 6
Dresden 6
London 6
Melbourne 6
Palma De Mallorca 6
Seoul 6
Shenyang 6
Stuttgart 6
Vancouver 6
Zhengzhou 6
Anderson 5
Austin 5
Falls Church 5
Legnano 5
Lubbock 5
Lyon 5
Madrid 5
Oslo 5
Paderborn 5
Rotterdam 5
San José 5
Sarajevo 5
Atlanta 4
Bothell 4
Campi Bisenzio 4
Central District 4
Clarks Summit 4
Duncan 4
Eitensheim 4
Evanston 4
Indianapolis 4
Modena 4
Mumbai 4
Totale 2.724
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Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 731
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 611
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 521
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 486
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 314
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 254
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 207
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 207
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. 182
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia 171
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 159
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 147
A rare craniosynostosis associated with an atypical 22q11 microdeletion 113
Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale 113
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes 110
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM 109
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY 105
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM 104
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA 104
Cover Image, Volume 170A, Number 7, July 2016 96
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET 93
Totale 4.937
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Categoria #
all - tutte 10.073
article - articoli 0
book - libri 0
conference - conferenze 2.407
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 12.480
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020606 0 0 0 0 68 207 71 50 62 71 45 32
2020/2021453 33 43 54 36 41 26 46 20 38 27 36 53
2021/2022522 29 18 23 82 30 46 29 31 19 31 119 65
2022/2023616 43 61 11 71 60 131 42 40 76 21 27 33
2023/2024376 30 51 36 20 37 39 27 34 15 19 23 45
2024/2025245 19 48 40 57 81 0 0 0 0 0 0 0
Totale 4.937