IRIS Institutional Research Information System - OPENBS Open Archive UniBS

Dordoni, Chiara
 Distribuzione geografica
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Continente #
NA - Nord America 2.870
EU - Europa 2.064
AS - Asia 1.151
SA - Sud America 180
Continente sconosciuto - Info sul continente non disponibili 99
AF - Africa 32
OC - Oceania 22
Totale 6.418
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Nazione #
US - Stati Uniti d'America 2.813
PL - Polonia 1.106
CN - Cina 410
SG - Singapore 372
UA - Ucraina 182
IT - Italia 165
BR - Brasile 147
DE - Germania 129
FI - Finlandia 114
GB - Regno Unito 100
VN - Vietnam 98
HK - Hong Kong 94
FR - Francia 92
IN - India 40
IE - Irlanda 38
RU - Federazione Russa 36
CA - Canada 31
TR - Turchia 31
NL - Olanda 30
AU - Australia 22
BD - Bangladesh 22
BE - Belgio 20
ES - Italia 15
ID - Indonesia 14
SE - Svezia 14
JP - Giappone 12
MX - Messico 11
ZA - Sudafrica 10
AR - Argentina 9
IQ - Iraq 9
PK - Pakistan 8
AT - Austria 7
SA - Arabia Saudita 7
CO - Colombia 6
PT - Portogallo 6
CL - Cile 5
KR - Corea 5
MA - Marocco 5
NG - Nigeria 5
CH - Svizzera 4
HN - Honduras 4
UZ - Uzbekistan 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
EG - Egitto 3
IL - Israele 3
JO - Giordania 3
MY - Malesia 3
NP - Nepal 3
PH - Filippine 3
PY - Paraguay 3
TN - Tunisia 3
AZ - Azerbaigian 2
BO - Bolivia 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
EC - Ecuador 2
JM - Giamaica 2
KZ - Kazakistan 2
PA - Panama 2
UY - Uruguay 2
AM - Armenia 1
AO - Angola 1
BB - Barbados 1
CG - Congo 1
CR - Costa Rica 1
ET - Etiopia 1
GA - Gabon 1
GT - Guatemala 1
KE - Kenya 1
LT - Lituania 1
LU - Lussemburgo 1
MU - Mauritius 1
OM - Oman 1
PS - Palestinian Territory 1
RO - Romania 1
RS - Serbia 1
SV - El Salvador 1
VC - Saint Vincent e Grenadine 1
Totale 6.319
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Città #
Warsaw 1.102
Fairfield 290
Ashburn 272
Singapore 195
Woodbridge 191
Jacksonville 139
Houston 138
Seattle 131
Ann Arbor 130
Cambridge 124
San Jose 121
Wilmington 112
Beijing 95
Chandler 94
Hong Kong 91
Helsinki 88
The Dalles 76
Council Bluffs 61
Princeton 60
New York 58
Brescia 48
Los Angeles 48
Nanjing 45
Munich 39
Dublin 38
Dearborn 35
Dallas 34
Dong Ket 34
Lancaster 32
Lauterbourg 28
Istanbul 25
Santa Clara 22
São Paulo 21
Shanghai 20
Jinan 18
Nanchang 17
San Diego 17
San Francisco 17
Chicago 16
Hanoi 15
Ho Chi Minh City 15
Phoenix 15
Turku 15
Brussels 14
Buffalo 14
Changsha 14
Des Moines 14
Columbus 13
Moscow 13
Shenyang 13
Tianjin 13
Jakarta 12
Tokyo 12
Hebei 11
Redondo Beach 11
Amsterdam 10
Zhengzhou 10
Boston 9
London 9
Milan 9
Rome 9
Springfield 9
Toronto 9
Atlanta 8
Mexico City 8
Orem 8
Denver 7
Manchester 7
Ningbo 7
Baltimore 6
Brooklyn 6
Chennai 6
Frankfurt am Main 6
Fuzhou 6
Jiaxing 6
Johannesburg 6
Nuremberg 6
Ottawa 6
Porto 6
Vienna 6
Abuja 5
Baghdad 5
Belo Horizonte 5
Charlotte 5
Haiphong 5
Hangzhou 5
North Bergen 5
Philadelphia 5
Poplar 5
Pune 5
Stockholm 5
Waanrode 5
Basel 4
Boardman 4
Bologna 4
Brasília 4
Falkenstein 4
Falls Church 4
Guangzhou 4
Hải Dương 4
Totale 4.613
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Nome #
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review 441
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome 364
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 348
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type 293
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 290
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 267
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 258
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes 254
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 249
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review. 225
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 224
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 221
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 215
COL6A5 variants in familial neuropathic chronic itch 204
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 189
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 176
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 169
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 167
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 164
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 159
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 158
Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing 156
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorder 154
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees. 150
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review 140
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 139
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 132
Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review 130
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype 91
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry 88
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 73
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review 63
#6036 CYSTIC KIDNEY PHENOTYPE IS A FREQUENT, AGE- AND EGFR- DEPENDENT FINDING IN ALPORT SYNDROME 25
Phenotypic Heterogeneity in Type IV Collagen-Associated Nephropathy: The Cystic Phenotype 22
#623 SGLT2 inhibitors in adult patients with Alport syndrome: a single center Italian experience 20
Totale 6.418
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Categoria #
all - tutte 25.457
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 25.457
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022240 0 0 13 15 10 28 12 26 13 36 18 69
2022/2023272 41 2 6 22 32 67 1 28 39 7 14 13
2023/2024290 24 12 23 26 19 65 15 11 41 9 5 40
2024/2025611 4 5 4 91 52 60 54 17 60 38 135 91
2025/20261.509 131 183 83 174 158 156 227 44 97 143 84 29
2026/2027210 84 79 47 0 0 0 0 0 0 0 0 0
Totale 6.418