SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

BIGONI, Stefania
 Distribuzione geografica
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Continente #
NA - Nord America 3.430
AS - Asia 2.115
EU - Europa 1.467
SA - Sud America 318
Continente sconosciuto - Info sul continente non disponibili 94
AF - Africa 46
OC - Oceania 9
Totale 7.479
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Nazione #
US - Stati Uniti d'America 3.310
SG - Singapore 808
CN - Cina 478
IT - Italia 426
DE - Germania 369
BR - Brasile 241
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 54
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 28
BE - Belgio 25
ZA - Sudafrica 25
ES - Italia 20
LT - Lituania 17
PL - Polonia 16
CO - Colombia 14
IQ - Iraq 12
AT - Austria 11
RO - Romania 10
AU - Australia 9
MY - Malesia 9
CZ - Repubblica Ceca 8
EC - Ecuador 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
IL - Israele 5
IE - Irlanda 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
PR - Porto Rico 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
QA - Qatar 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
SX - ???statistics.table.value.countryCode.SX??? 1
TH - Thailandia 1
UY - Uruguay 1
Totale 7.391
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Città #
Singapore 517
Ashburn 408
San Jose 276
Munich 260
Beijing 243
Santa Clara 242
Hong Kong 235
Fairfield 207
Woodbridge 191
Chandler 137
Houston 125
New York 122
Council Bluffs 120
Helsinki 104
Ann Arbor 98
Los Angeles 95
Seattle 85
Jacksonville 82
Ho Chi Minh City 76
Wilmington 71
Cambridge 68
Dallas 65
Hanoi 60
Milan 57
Tokyo 42
Ferrara 37
Nanjing 34
São Paulo 34
Shanghai 32
Lauterbourg 31
Mexico City 31
Buffalo 26
Princeton 26
Izmir 25
Rome 25
Orem 23
San Diego 20
Chicago 19
Denver 19
Jakarta 18
Brussels 17
Johannesburg 17
Boardman 16
Buenos Aires 16
London 16
Montreal 16
Atlanta 15
Bremen 15
Poplar 14
Warsaw 14
Brooklyn 13
Chennai 13
Phoenix 13
Redwood City 13
Tianjin 13
Toronto 13
Bologna 12
Turku 12
Naples 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
Reggio Emilia 8
Batman 7
Florence 7
Nuremberg 7
Padova 7
Querétaro 7
Rio de Janeiro 7
Stockholm 7
Turin 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
Addison 5
Baghdad 5
Calgary 5
Can Tho 5
Totale 4.951
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Nome #
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 437
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria 413
Un'ipotonia sospetta 393
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 315
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 303
A Family with γ-Thalassemia and High Hb A2 Levels 299
Dalla neonata alla madre: diagnosi di distrofia miotonica 247
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature 242
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 241
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 234
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia 227
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 223
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy 220
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 220
An interconnected data infrastructure to support large-scale rare disease research 210
Thyroid function in Rett syndrome 210
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 194
Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome 188
Pura syndrome: an emerging neurodevelopmental disorder 187
Expanding CEP290 mutational spectrumin ciliopathies 181
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype 181
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder 181
Angelman, Angelman-like, Angelman EEG-like 180
Rett syndrome: a wide clinical and autonomic picture 170
Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who? 166
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 164
PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum 162
White matter alterations in 11q Deletion Syndrome: MRI aspecific findings? 160
Unusual father-to-daughter transmission of incontinentia pigmenti due to mosaicism in IP males 160
Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes 144
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 143
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype 137
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation 136
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 108
Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome 103
Totale 7.479
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Categoria #
all - tutte 31.153
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 31.153
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022259 0 0 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
2026/2027644 346 208 90 0 0 0 0 0 0 0 0 0
Totale 7.479