SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

BIGONI, Stefania
 Distribuzione geografica
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Continente #
NA - Nord America 1.308
EU - Europa 348
AS - Asia 180
SA - Sud America 6
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 1
Totale 1.848
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Nazione #
US - Stati Uniti d'America 1.307
IT - Italia 137
CN - Cina 110
UA - Ucraina 47
DE - Germania 43
GB - Regno Unito 43
SG - Singapore 32
SE - Svezia 24
TR - Turchia 24
FI - Finlandia 16
BE - Belgio 9
ES - Italia 7
AU - Australia 5
CZ - Repubblica Ceca 5
ID - Indonesia 5
NL - Olanda 4
BR - Brasile 3
CH - Svizzera 3
FR - Francia 3
IN - India 3
RO - Romania 3
AL - Albania 2
CO - Colombia 2
KR - Corea 2
CA - Canada 1
CL - Cile 1
CY - Cipro 1
EU - Europa 1
IR - Iran 1
JP - Giappone 1
LI - Liechtenstein 1
RS - Serbia 1
VN - Vietnam 1
Totale 1.848
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Città #
Fairfield 188
Woodbridge 149
Chandler 125
Houston 105
Ashburn 90
Ann Arbor 77
Seattle 73
Jacksonville 64
Cambridge 58
Wilmington 56
New York 47
Shanghai 23
Singapore 23
Beijing 22
Nanjing 22
Ferrara 21
Milan 21
Princeton 21
Izmir 19
San Diego 16
Boardman 14
Bremen 13
Redwood City 13
Nanchang 10
Falls Church 9
Trebaseleghe 9
Brussels 8
Changsha 8
Padova 7
Shenyang 6
Dearborn 5
Hebei 5
Jakarta 5
London 5
Malvern East 5
Addison 4
Jiaxing 4
Winchester 4
Bologna 3
Borgo San Giacomo 3
Brno 3
Dallas 3
Des Moines 3
Fribourg 3
Granada 3
Kuopio 3
Mountain View 3
Rome 3
San Mateo 3
Staten Island 3
Tianjin 3
Trento 3
Acton 2
Chicago 2
Conegliano 2
Florence 2
Kolkata 2
Los Angeles 2
Misterbianco 2
Norwalk 2
Peschiera 2
Ponte San Pietro 2
San Lazzaro di Savena 2
Tappahannock 2
Tirana 2
Trieste 2
Washington 2
Yellow Springs 2
Zhengzhou 2
Ardabil 1
Belfast 1
Beograd 1
Changchun 1
Denville 1
Deurne 1
Ferrara di Monte Baldo 1
Foggia 1
Follina 1
Forest City 1
Haikou 1
Hanoi 1
Helsinki 1
Hyderabad 1
Kilburn 1
Kunming 1
Lappeenranta 1
Limassol 1
New Bedfont 1
Ningbo 1
Olomouc 1
Orange 1
Osasco 1
Perugia 1
Philadelphia 1
Pietraperzia 1
Redmond 1
Reggio Nell'emilia 1
Rochester 1
San Francisco 1
San Vito Di Leguzzano 1
Totale 1.461
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Nome #
Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy 128
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia 120
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 117
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 112
Pura syndrome: an emerging neurodevelopmental disorder 112
Thyroid function in Rett syndrome 110
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 104
A Family with γ-Thalassemia and High Hb A2 Levels 104
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 102
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 92
Dalla neonata alla madre: diagnosi di distrofia miotonica 89
Unusual father-to-daughter transmission of incontinentia pigmenti due to mosaicism in IP males 89
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature 87
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 86
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 86
Un'ipotonia sospetta 79
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 74
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria 50
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype 46
Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes 32
PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum 28
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 20
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder 13
Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome 12
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation 12
Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome 5
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype 4
Totale 1.913
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Categoria #
all - tutte 9.283
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 9.283
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020421 58 15 17 63 30 50 41 36 45 39 11 16
2020/2021276 12 20 21 25 32 29 10 28 15 35 29 20
2021/2022265 11 28 11 26 21 18 16 19 9 13 22 71
2022/2023292 27 24 15 35 49 40 27 15 29 3 17 11
2023/2024218 17 18 8 9 11 62 13 12 5 13 3 47
2024/20255 5 0 0 0 0 0 0 0 0 0 0 0
Totale 1.913