SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

BIGONI, Stefania
 Distribuzione geografica
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Continente #
NA - Nord America 2.434
AS - Asia 1.308
EU - Europa 1.187
SA - Sud America 243
AF - Africa 27
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 3
Totale 5.210
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Nazione #
US - Stati Uniti d'America 2.362
SG - Singapore 578
CN - Cina 383
DE - Germania 363
IT - Italia 271
BR - Brasile 196
FI - Finlandia 129
HK - Hong Kong 122
GB - Regno Unito 111
VN - Vietnam 91
UA - Ucraina 70
RU - Federazione Russa 56
TR - Turchia 44
NL - Olanda 37
SE - Svezia 36
CA - Canada 35
MX - Messico 34
AR - Argentina 26
ID - Indonesia 23
BE - Belgio 21
IN - India 19
ES - Italia 18
LT - Lituania 15
ZA - Sudafrica 15
PL - Polonia 14
JP - Giappone 11
FR - Francia 10
AT - Austria 8
AU - Australia 8
CZ - Repubblica Ceca 8
CO - Colombia 7
BD - Bangladesh 6
EC - Ecuador 6
RO - Romania 5
CH - Svizzera 4
PK - Pakistan 4
CL - Cile 3
EG - Egitto 3
EU - Europa 3
IL - Israele 3
JO - Giordania 3
KR - Corea 3
PY - Paraguay 3
AL - Albania 2
AZ - Azerbaigian 2
CY - Cipro 2
DK - Danimarca 2
GH - Ghana 2
IE - Irlanda 2
MA - Marocco 2
MY - Malesia 2
SY - Repubblica araba siriana 2
TN - Tunisia 2
AE - Emirati Arabi Uniti 1
BB - Barbados 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
CR - Costa Rica 1
DZ - Algeria 1
ET - Etiopia 1
GR - Grecia 1
HN - Honduras 1
IQ - Iraq 1
IR - Iran 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LI - Liechtenstein 1
MD - Moldavia 1
NP - Nepal 1
RS - Serbia 1
SN - Senegal 1
TW - Taiwan 1
UY - Uruguay 1
UZ - Uzbekistan 1
VE - Venezuela 1
Totale 5.210
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Città #
Singapore 323
Ashburn 271
Munich 260
Fairfield 207
Woodbridge 190
Beijing 182
Chandler 137
Santa Clara 137
Houston 122
Hong Kong 120
Ann Arbor 98
New York 89
Helsinki 87
Seattle 85
Jacksonville 80
Wilmington 70
Los Angeles 69
Cambridge 68
Dallas 60
Milan 38
Ferrara 37
Ho Chi Minh City 36
Nanjing 34
Shanghai 30
São Paulo 27
Princeton 26
Buffalo 25
Izmir 25
Hanoi 21
Mexico City 20
Jakarta 18
San Diego 18
Brussels 17
Boardman 16
Bremen 15
Buenos Aires 15
Denver 15
London 14
Redwood City 13
Warsaw 13
Chicago 12
Montreal 12
Poplar 12
Tianjin 12
Turku 12
Brooklyn 11
Johannesburg 11
Orem 11
The Dalles 11
Tokyo 11
Atlanta 10
Leeds 10
Nanchang 10
Bologna 9
Boston 9
Falkenstein 9
Falls Church 9
Trebaseleghe 9
Changsha 8
Gualtieri 8
Hefei 8
Reggio Emilia 8
Batman 7
Chennai 7
Frankfurt am Main 7
Padova 7
Phoenix 7
Querétaro 7
Rome 7
Brasília 6
Columbus 6
Council Bluffs 6
Dearborn 6
Haren 6
Hebei 6
Jyväskylä 6
Moscow 6
Naples 6
Nuremberg 6
Shenyang 6
Stockholm 6
Toronto 6
Trento 6
Addison 5
Ankara 5
Campinas 5
City of London 5
Da Nang 5
Erlangen 5
Jiaxing 5
Lappeenranta 5
Malvern East 5
Rio de Janeiro 5
Turin 5
Assago 4
Calgary 4
Guangzhou 4
Hamburg 4
Hoofddorp 4
Mountain View 4
Totale 3.562
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Nome #
Un'ipotonia sospetta 324
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria 286
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 279
A Family with γ-Thalassemia and High Hb A2 Levels 229
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia 200
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 194
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 194
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 188
Dalla neonata alla madre: diagnosi di distrofia miotonica 181
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy 180
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature 179
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 174
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 169
Thyroid function in Rett syndrome 166
Pura syndrome: an emerging neurodevelopmental disorder 162
An interconnected data infrastructure to support large-scale rare disease research 145
Expanding CEP290 mutational spectrumin ciliopathies 144
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype 139
Angelman, Angelman-like, Angelman EEG-like 137
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 133
White matter alterations in 11q Deletion Syndrome: MRI aspecific findings? 130
Rett syndrome: a wide clinical and autonomic picture 128
Unusual father-to-daughter transmission of incontinentia pigmenti due to mosaicism in IP males 127
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 125
Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome 114
Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who? 112
PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum 104
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 98
Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes 98
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation 89
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder 84
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype 82
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 75
Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome 68
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 61
Totale 5.298
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Categoria #
all - tutte 24.844
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 24.844
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021188 0 0 0 0 0 33 11 34 15 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
2025/20261.719 265 144 255 413 559 83 0 0 0 0 0 0
Totale 5.298