SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

BIGONI, Stefania
 Distribuzione geografica
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Continente #
NA - Nord America 2.892
AS - Asia 1.797
EU - Europa 1.351
SA - Sud America 309
AF - Africa 46
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 5
Totale 6.409
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Nazione #
US - Stati Uniti d'America 2.802
SG - Singapore 713
CN - Cina 415
DE - Germania 368
IT - Italia 323
BR - Brasile 237
VN - Vietnam 228
HK - Hong Kong 172
FI - Finlandia 146
GB - Regno Unito 120
UA - Ucraina 74
RU - Federazione Russa 60
TR - Turchia 52
FR - Francia 49
NL - Olanda 49
IN - India 46
JP - Giappone 42
CA - Canada 41
MX - Messico 41
SE - Svezia 37
AR - Argentina 33
ID - Indonesia 27
ZA - Sudafrica 25
BD - Bangladesh 21
BE - Belgio 21
ES - Italia 20
LT - Lituania 17
PL - Polonia 16
CO - Colombia 13
IQ - Iraq 12
AT - Austria 11
RO - Romania 10
AU - Australia 9
CZ - Repubblica Ceca 8
EC - Ecuador 8
PK - Pakistan 8
MY - Malesia 6
SA - Arabia Saudita 6
TN - Tunisia 6
VE - Venezuela 6
AE - Emirati Arabi Uniti 5
CH - Svizzera 5
CL - Cile 4
IE - Irlanda 4
IL - Israele 4
JO - Giordania 4
LB - Libano 4
NP - Nepal 4
PY - Paraguay 4
UZ - Uzbekistan 4
AL - Albania 3
AZ - Azerbaigian 3
CY - Cipro 3
DK - Danimarca 3
EG - Egitto 3
ET - Etiopia 3
EU - Europa 3
KR - Corea 3
BH - Bahrain 2
BO - Bolivia 2
DZ - Algeria 2
GH - Ghana 2
HN - Honduras 2
JM - Giamaica 2
MA - Marocco 2
SN - Senegal 2
SY - Repubblica araba siriana 2
TW - Taiwan 2
XK - ???statistics.table.value.countryCode.XK??? 2
BB - Barbados 1
BF - Burkina Faso 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BS - Bahamas 1
BY - Bielorussia 1
CR - Costa Rica 1
GR - Grecia 1
HR - Croazia 1
IR - Iran 1
KW - Kuwait 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LI - Liechtenstein 1
MD - Moldavia 1
OM - Oman 1
PA - Panama 1
PE - Perù 1
PH - Filippine 1
QA - Qatar 1
RS - Serbia 1
TH - Thailandia 1
UY - Uruguay 1
Totale 6.409
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Città #
Singapore 450
Ashburn 393
Munich 260
Fairfield 207
Woodbridge 190
Beijing 187
San Jose 184
Hong Kong 169
Santa Clara 144
Chandler 137
Houston 123
Helsinki 104
Ann Arbor 98
New York 95
Seattle 85
Jacksonville 80
Los Angeles 77
Ho Chi Minh City 76
Wilmington 70
Cambridge 68
Dallas 61
Hanoi 60
Council Bluffs 51
Milan 43
Tokyo 42
Ferrara 37
Nanjing 34
São Paulo 34
Shanghai 32
Lauterbourg 31
Princeton 26
Buffalo 25
Izmir 25
Mexico City 23
Orem 23
San Diego 19
Jakarta 18
Brussels 17
Denver 17
Johannesburg 17
Boardman 16
Buenos Aires 16
London 16
Bremen 15
Chicago 15
Montreal 15
Poplar 14
Warsaw 14
Atlanta 13
Chennai 13
Redwood City 13
Brooklyn 12
Tianjin 12
Turku 12
Bologna 11
Rome 11
The Dalles 11
Amsterdam 10
Da Nang 10
Leeds 10
Nanchang 10
Boston 9
Falkenstein 9
Falls Church 9
Haiphong 9
Trebaseleghe 9
Changsha 8
Frankfurt am Main 8
Gualtieri 8
Hefei 8
Naples 8
Reggio Emilia 8
Toronto 8
Batman 7
Nuremberg 7
Padova 7
Phoenix 7
Querétaro 7
Stockholm 7
Ankara 6
Brasília 6
Campinas 6
City of London 6
Columbus 6
Dearborn 6
Haren 6
Hebei 6
Hải Dương 6
Jyväskylä 6
Moscow 6
Reston 6
Rio de Janeiro 6
Shenyang 6
Trento 6
Addison 5
Baghdad 5
Can Tho 5
Erlangen 5
Jiaxing 5
Lappeenranta 5
Totale 4.364
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Nome #
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria 384
Un'ipotonia sospetta 371
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 302
A Family with γ-Thalassemia and High Hb A2 Levels 270
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 243
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 236
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia 221
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 217
Dalla neonata alla madre: diagnosi di distrofia miotonica 215
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature 214
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy 212
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 208
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region 200
Thyroid function in Rett syndrome 182
An interconnected data infrastructure to support large-scale rare disease research 180
Expanding CEP290 mutational spectrumin ciliopathies 175
Pura syndrome: an emerging neurodevelopmental disorder 175
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 169
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype 168
Angelman, Angelman-like, Angelman EEG-like 164
Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome 160
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 154
White matter alterations in 11q Deletion Syndrome: MRI aspecific findings? 152
Unusual father-to-daughter transmission of incontinentia pigmenti due to mosaicism in IP males 151
Rett syndrome: a wide clinical and autonomic picture 150
Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who? 144
PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum 143
Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes 135
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype 131
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation 128
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder 125
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 123
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 113
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 91
Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome 91
Totale 6.497
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Categoria #
all - tutte 27.033
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 27.033
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202195 0 0 0 0 0 0 0 0 0 38 34 23
2021/2022301 12 30 15 27 21 19 20 23 9 18 24 83
2022/2023330 31 24 17 37 54 48 30 18 34 3 19 15
2023/2024258 19 22 8 10 13 65 16 13 13 14 3 62
2024/20251.355 32 20 82 37 131 167 153 102 230 147 133 121
2025/20262.918 265 144 255 413 559 222 350 177 265 268 0 0
Totale 6.497