SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

BIGONI, Stefania
 Distribuzione geografica
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Continente #
NA - Nord America 3.354
AS - Asia 2.111
EU - Europa 1.443
SA - Sud America 316
Continente sconosciuto - Info sul continente non disponibili 93
AF - Africa 46
OC - Oceania 9
Totale 7.372
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Nazione #
US - Stati Uniti d'America 3.236
SG - Singapore 807
CN - Cina 478
IT - Italia 402
DE - Germania 369
BR - Brasile 240
HK - Hong Kong 238
VN - Vietnam 228
FI - Finlandia 146
GB - Regno Unito 120
BD - Bangladesh 110
UA - Ucraina 75
RU - Federazione Russa 60
CA - Canada 53
TR - Turchia 52
NL - Olanda 50
FR - Francia 49
MX - Messico 49
IN - India 46
JP - Giappone 42
SE - Svezia 41
AR - Argentina 34
ID - Indonesia 27
BE - Belgio 25
ZA - Sudafrica 25
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
MY - Malesia 8
PK - Pakistan 8
VE - Venezuela 8
SA - Arabia Saudita 6
TN - Tunisia 6
AE - Emirati Arabi Uniti 5
CH - Svizzera 5
CL - Cile 5
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
CR - Costa Rica 3
CY - Cipro 3
DK - Danimarca 3
EG - Egitto 3
ET - Etiopia 3
EU - Europa 3
JM - Giamaica 3
KR - Corea 3
BH - Bahrain 2
BO - Bolivia 2
BS - Bahamas 2
DZ - Algeria 2
GH - Ghana 2
GR - Grecia 2
HN - Honduras 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
BY - Bielorussia 1
GT - Guatemala 1
HR - Croazia 1
IR - Iran 1
KN - Saint Kitts e Nevis 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
PR - Porto Rico 1
QA - Qatar 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
TH - Thailandia 1
UY - Uruguay 1
Totale 7.284
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Città #
Singapore 517
Ashburn 407
Munich 260
San Jose 244
Beijing 243
Santa Clara 242
Hong Kong 235
Fairfield 207
Woodbridge 191
Chandler 137
Houston 124
New York 122
Council Bluffs 118
Helsinki 104
Ann Arbor 98
Los Angeles 94
Seattle 85
Jacksonville 82
Ho Chi Minh City 76
Wilmington 71
Cambridge 68
Dallas 63
Hanoi 60
Milan 50
Tokyo 42
Ferrara 37
Nanjing 34
São Paulo 34
Shanghai 32
Lauterbourg 31
Mexico City 31
Buffalo 26
Princeton 26
Izmir 25
Orem 23
Rome 20
San Diego 20
Denver 19
Jakarta 18
Brussels 17
Johannesburg 17
Boardman 16
Buenos Aires 16
London 16
Montreal 16
Atlanta 15
Bremen 15
Chicago 15
Poplar 14
Warsaw 14
Brooklyn 13
Chennai 13
Phoenix 13
Redwood City 13
Tianjin 13
Toronto 13
Bologna 12
Turku 12
The Dalles 11
Amsterdam 10
Da Nang 10
Leeds 10
Nanchang 10
Naples 10
Boston 9
Falkenstein 9
Falls Church 9
Haiphong 9
Trebaseleghe 9
Changsha 8
Frankfurt am Main 8
Gualtieri 8
Hefei 8
Reggio Emilia 8
Batman 7
Nuremberg 7
Padova 7
Querétaro 7
Rio de Janeiro 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
Shenyang 6
Trento 6
Turin 6
Addison 5
Baghdad 5
Calgary 5
Can Tho 5
Erlangen 5
Totale 4.892
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Nome #
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 436
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria 409
Un'ipotonia sospetta 391
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 311
A Family with γ-Thalassemia and High Hb A2 Levels 298
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 277
Dalla neonata alla madre: diagnosi di distrofia miotonica 244
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 241
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature 239
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 229
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia 226
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 220
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 219
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy 218
An interconnected data infrastructure to support large-scale rare disease research 209
Thyroid function in Rett syndrome 208
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 192
Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome 185
Pura syndrome: an emerging neurodevelopmental disorder 184
Expanding CEP290 mutational spectrumin ciliopathies 180
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype 180
Angelman, Angelman-like, Angelman EEG-like 178
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder 174
Rett syndrome: a wide clinical and autonomic picture 169
PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum 161
Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who? 160
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 159
White matter alterations in 11q Deletion Syndrome: MRI aspecific findings? 158
Unusual father-to-daughter transmission of incontinentia pigmenti due to mosaicism in IP males 158
Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes 143
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 137
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype 136
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation 133
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 107
Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome 103
Totale 7.372
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Categoria #
all - tutte 30.641
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 30.641
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022289 0 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
2025/20263.256 265 144 255 413 559 222 350 177 265 320 162 124
2026/2027537 346 191 0 0 0 0 0 0 0 0 0 0
Totale 7.372