CINECA IRIS Institutional Research Information System

BIAMINO, ELISA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 4.837
NA - Nord America 3.267
AS - Asia 986
SA - Sud America 95
OC - Oceania 43
AF - Africa 23
Continente sconosciuto - Info sul continente non disponibili 1
Totale 9.252
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 3.271
US - Stati Uniti d'America 3.175
CN - Cina 441
SE - Svezia 265
FR - Francia 228
SG - Singapore 225
IE - Irlanda 188
DE - Germania 169
GB - Regno Unito 120
FI - Finlandia 106
AT - Austria 105
UA - Ucraina 105
KR - Corea 70
CA - Canada 69
BR - Brasile 65
PL - Polonia 59
JP - Giappone 57
IN - India 47
ES - Italia 43
VN - Vietnam 40
AU - Australia 39
NL - Olanda 26
TR - Turchia 25
BE - Belgio 24
CH - Svizzera 22
HK - Hong Kong 20
PT - Portogallo 17
RU - Federazione Russa 17
ID - Indonesia 13
TW - Taiwan 13
CZ - Repubblica Ceca 12
MX - Messico 12
DK - Danimarca 11
SN - Senegal 9
IR - Iran 8
NO - Norvegia 8
RO - Romania 8
AR - Argentina 7
HU - Ungheria 7
PE - Perù 7
CO - Colombia 6
EG - Egitto 6
GR - Grecia 6
CR - Costa Rica 5
SI - Slovenia 5
BG - Bulgaria 4
CL - Cile 4
MY - Malesia 4
NZ - Nuova Zelanda 4
PR - Porto Rico 4
AE - Emirati Arabi Uniti 3
BA - Bosnia-Erzegovina 3
BO - Bolivia 3
EC - Ecuador 3
IL - Israele 3
NG - Nigeria 3
TH - Thailandia 3
UZ - Uzbekistan 3
ZA - Sudafrica 3
LU - Lussemburgo 2
MV - Maldive 2
PH - Filippine 2
PK - Pakistan 2
RS - Serbia 2
SA - Arabia Saudita 2
A2 - ???statistics.table.value.countryCode.A2??? 1
BD - Bangladesh 1
BS - Bahamas 1
BY - Bielorussia 1
CY - Cipro 1
DZ - Algeria 1
GE - Georgia 1
GT - Guatemala 1
LT - Lituania 1
MK - Macedonia 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
Totale 9.252
Salva come PNG Salva come JPEG
Città #
Chandler 370
Houston 294
Beijing 243
Rome 208
Singapore 186
Dublin 178
Torino 174
Milan 144
Ann Arbor 141
Santa Clara 131
Ashburn 130
Fairfield 118
Vienna 99
Dearborn 94
Wilmington 93
Villeurbanne 84
Nyköping 79
Naples 78
Florence 73
Turin 73
Woodbridge 72
Redwood City 70
Seattle 70
Princeton 62
Medford 58
Cambridge 54
Jacksonville 48
Palermo 44
Columbus 43
Bari 41
Warsaw 41
Catania 40
Pisa 37
Genoa 35
Padova 31
Dong Ket 27
Boardman 23
Bologna 23
Messina 23
Fremont 22
Helsinki 21
Nanjing 21
Shanghai 21
Latina 18
Boston 17
Washington 16
Napoli 15
New York 15
Verona 15
Brussels 14
Toronto 14
Istanbul 13
Paris 13
Dallas 12
Jakarta 12
London 12
Ottawa 12
Brescia 11
Falls Church 11
Pescara 11
Taipei 11
Tokyo 11
Trieste 11
Bergamo 10
Hangzhou 10
Lipomo 10
Perugia 10
Guangzhou 9
Kunming 9
Philadelphia 9
Castellammare di Stabia 8
Lecce 8
Livorno 8
Los Angeles 8
Modena 8
Mumbai 8
Norwalk 8
Pavia 8
Pomezia 8
Trento 8
Brisbane 7
Bulandshahr 7
Calgary 7
Cardiff 7
Cecina 7
Hefei 7
Lima 7
Matera 7
Mesagne 7
Munich 7
Phoenix 7
São Paulo 7
Woburn 7
Aci Sant'Antonio 6
Alessandria 6
Andover 6
Arquata 6
Atlanta 6
Barcelona 6
Chieri 6
Totale 4.461
Salva come PNG Salva come JPEG
Nome #
Genetica dell'autismo 2.697
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity 736
Un caso di inv dup del(9p) con sex-reversal e cardiopatia congenita 691
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 620
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 488
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
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. 209
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient 190
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism 165
Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism 139
Metabolic progression to clinical phenotype in classic Fabry disease 136
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability 133
Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study 129
Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients 123
A rare craniosynostosis associated with an atypical 22q11 microdeletion 116
Microduplicazione 17p13.1 in un paziente con diabete mellito2, sindrome metabolica e ritardo mentale 114
Clinical manifestations in a cohort of 32 children with 22q11 deletion syndrome 107
Prevention and management of hearing loss in syndromic craniosynostosis: A case series 97
Cover Image, Volume 170A, Number 7, July 2016 96
An atypical 7q11.23 deletion in a normal IQ Williams-Beurensyndrome patient 95
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 92
Heterotopic bone formation not related to PHO/FOP disease: a new entity 92
Congenital hypothyroidism, cerebellar atrophy and incomplete phenotipic expression of PHACES syndrome 86
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability 85
ARRAY-CGH analysis in 92 children with complex syndromic phenotype 84
A familial case of DD/ID variable psychiatric phenotype and optic atrophy due to a novel 1,5 Mb deletion on 2q29 84
Array-CGH analysis in a patient with Acrocallosal Syndrome 84
Myhre syndrome. report of three unrelated patients 82
A novel H208D TP63 mutation in a familial case of ectrodactytly-ectodermal dysplasia-cleft lip/palate without clefting 82
7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages 78
ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation 76
Analisi molecolare Arrays-CGH in 36 pazienti con fenotipo sindromico complesso 74
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome 74
Eyebrow anomalies as a diagnostic sign of genomic disorders 72
Analisi molecolare e caratteristiche cliniche di 42 pazienti con sindrome di Beckwith e quadri correlati 72
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) 71
Un caso di nanismo disarmonico 71
Clinical and molecolar characterization of 40 patients with Noonan syndrome 71
Early higher dosage of alglucosidase alpha in classic Pompe disease 71
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire 69
Riduzione dell'attività dell'arilsulfatasi B in pazienti affetti da fibrosi cistica 68
A novel COLEC10 mutation in a child with 3MC syndrome 68
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 58
Playing competitive basketball in face of late-onset pompe disease 54
Remittent hyperammonemia in congenital portosystemic shunt 50
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability 48
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities 48
fenotipo e valutazione clinica di una coorte di 22 pazienti affetti da sindrome di Williams 47
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. 43
Progressive extreme heterotopic calcification 42
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder 28
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability 16
Totale 9.475
Salva come PNG Salva come JPEG
Categoria #
all - tutte 19.657
article - articoli 0
book - libri 0
conference - conferenze 4.481
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 24.138
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020815 0 0 0 0 0 307 116 81 82 100 74 55
2020/2021966 76 46 86 68 78 74 81 50 85 88 107 127
2021/20221.299 57 60 66 196 63 56 69 76 93 109 253 201
2022/20231.623 132 118 48 146 132 276 114 146 189 124 137 61
2023/20241.188 84 122 78 96 73 104 79 77 33 169 145 128
2024/2025922 103 94 110 162 353 100 0 0 0 0 0 0
Totale 9.475