IRIS Institutional Research Information System - OPENBS Open Archive UniBS

Dordoni, Chiara
 Distribuzione geografica
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Continente #
NA - Nord America 2.368
EU - Europa 1.924
AS - Asia 959
SA - Sud America 156
AF - Africa 17
OC - Oceania 6
Totale 5.430
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Nazione #
US - Stati Uniti d'America 2.331
PL - Polonia 1.102
CN - Cina 353
SG - Singapore 313
UA - Ucraina 179
IT - Italia 139
BR - Brasile 136
DE - Germania 123
GB - Regno Unito 87
HK - Hong Kong 83
FI - Finlandia 79
VN - Vietnam 76
FR - Francia 63
IE - Irlanda 38
IN - India 36
RU - Federazione Russa 34
TR - Turchia 28
NL - Olanda 25
CA - Canada 24
BE - Belgio 19
ID - Indonesia 13
BD - Bangladesh 12
ES - Italia 10
SE - Svezia 10
MX - Messico 9
IQ - Iraq 8
JP - Giappone 8
AR - Argentina 7
ZA - Sudafrica 7
AT - Austria 6
AU - Australia 6
PK - Pakistan 6
PT - Portogallo 6
SA - Arabia Saudita 6
CL - Cile 3
CO - Colombia 3
UZ - Uzbekistan 3
VE - Venezuela 3
AE - Emirati Arabi Uniti 2
BO - Bolivia 2
CZ - Repubblica Ceca 2
EG - Egitto 2
IL - Israele 2
JO - Giordania 2
KR - Corea 2
MA - Marocco 2
TN - Tunisia 2
AM - Armenia 1
AO - Angola 1
AZ - Azerbaigian 1
CG - Congo 1
DO - Repubblica Dominicana 1
EC - Ecuador 1
HN - Honduras 1
JM - Giamaica 1
KE - Kenya 1
KZ - Kazakistan 1
LU - Lussemburgo 1
MU - Mauritius 1
NP - Nepal 1
OM - Oman 1
PA - Panama 1
PH - Filippine 1
PY - Paraguay 1
RS - Serbia 1
Totale 5.430
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Città #
Warsaw 1.100
Fairfield 290
Ashburn 208
Woodbridge 191
Singapore 146
Jacksonville 138
Houston 137
Seattle 131
Ann Arbor 130
Cambridge 124
Wilmington 112
Chandler 94
Beijing 87
Hong Kong 80
Princeton 60
New York 56
Helsinki 53
Brescia 47
Nanjing 45
Los Angeles 40
Munich 39
Dublin 38
The Dalles 38
Dearborn 35
Dong Ket 34
Lancaster 32
Istanbul 25
Dallas 19
Shanghai 19
Jinan 18
São Paulo 18
Council Bluffs 17
Nanchang 17
San Diego 15
San Francisco 15
Turku 15
Brussels 14
Buffalo 14
Changsha 14
Santa Clara 14
Moscow 13
Shenyang 13
Chicago 12
Des Moines 12
Tianjin 12
Hanoi 11
Hebei 11
Jakarta 11
Redondo Beach 11
Ho Chi Minh City 10
Zhengzhou 10
Boston 8
Milan 8
Phoenix 8
Rome 8
Tokyo 8
Toronto 8
Amsterdam 7
London 7
Ningbo 7
Atlanta 6
Jiaxing 6
Mexico City 6
Nuremberg 6
Ottawa 6
Porto 6
Belo Horizonte 5
Charlotte 5
Chennai 5
Denver 5
Fuzhou 5
Hangzhou 5
Johannesburg 5
Manchester 5
Poplar 5
Pune 5
Vienna 5
Waanrode 5
Baghdad 4
Boardman 4
Brasília 4
Falkenstein 4
Falls Church 4
Frankfurt am Main 4
Guangzhou 4
Haiphong 4
Hải Dương 4
Orange 4
Riyadh 4
Brooklyn 3
College Station 3
Dhaka 3
Elk Grove Village 3
Guarulhos 3
Haikou 3
Hortolândia 3
Kunming 3
Montreal 3
Napoli 3
North Bergen 3
Totale 4.087
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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 356
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type 326
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome 297
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 266
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type 252
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type 235
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes 233
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients 223
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome? 223
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. 202
Clinical variability in two Macedonian families with Arterial tortuosity syndrome 202
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients 196
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type 194
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder 156
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type 151
COL6A5 variants in familial neuropathic chronic itch 151
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome 149
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review 147
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type 146
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders 144
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing 144
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 141
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 133
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. 130
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review 127
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity 122
Compound heterozygosity of the novel 186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa 115
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 115
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry 76
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype 70
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 55
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review 49
Totale 5.526
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Categoria #
all - tutte 21.480
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 21.480
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021436 0 0 0 0 0 71 36 70 72 91 52 44
2021/2022301 24 37 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
2025/2026827 131 183 83 174 158 98 0 0 0 0 0 0
Totale 5.526