CINECA IRIS Institutional Research Information System

MANDRILE, Giorgia
 Distribuzione geografica
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Continente #
NA - Nord America 2.513
EU - Europa 1.468
AS - Asia 659
OC - Oceania 59
SA - Sud America 55
AF - Africa 42
Continente sconosciuto - Info sul continente non disponibili 11
Totale 4.807
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Nazione #
US - Stati Uniti d'America 2.420
DE - Germania 421
IT - Italia 351
CN - Cina 325
GB - Regno Unito 159
CA - Canada 89
ES - Italia 80
NL - Olanda 78
FR - Francia 75
KR - Corea 66
IN - India 56
JP - Giappone 54
AU - Australia 51
PL - Polonia 44
VN - Vietnam 40
CH - Svizzera 34
CZ - Repubblica Ceca 33
BR - Brasile 27
BE - Belgio 24
ZA - Sudafrica 22
RU - Federazione Russa 21
SE - Svezia 19
TR - Turchia 19
HK - Hong Kong 17
IE - Irlanda 17
FI - Finlandia 16
GR - Grecia 14
CL - Cile 12
TW - Taiwan 11
A1 - Anonimo 10
AT - Austria 10
DK - Danimarca 10
EG - Egitto 10
IR - Iran 10
RO - Romania 10
CO - Colombia 9
IL - Israele 9
PK - Pakistan 9
PT - Portogallo 9
TH - Thailandia 9
ID - Indonesia 8
NZ - Nuova Zelanda 8
UA - Ucraina 8
BA - Bosnia-Erzegovina 6
AR - Argentina 5
LT - Lituania 5
SA - Arabia Saudita 5
SI - Slovenia 5
SK - Slovacchia (Repubblica Slovacca) 5
TN - Tunisia 5
HR - Croazia 4
SG - Singapore 4
AE - Emirati Arabi Uniti 3
HU - Ungheria 3
IQ - Iraq 3
MA - Marocco 3
NO - Norvegia 3
NP - Nepal 3
BG - Bulgaria 2
JO - Giordania 2
MX - Messico 2
BY - Bielorussia 1
CY - Cipro 1
DZ - Algeria 1
EU - Europa 1
GE - Georgia 1
GY - Guiana 1
KE - Kenya 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LV - Lettonia 1
PH - Filippine 1
PR - Porto Rico 1
TC - Turks e Caicos 1
VE - Venezuela 1
Totale 4.807
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Città #
Fairfield 239
Houston 193
Woodbridge 167
Seattle 141
Buffalo 128
Cambridge 113
Ashburn 110
Ann Arbor 109
Santa Cruz 87
Beijing 80
Wilmington 75
Torino 69
Shanghai 41
Guangzhou 33
New York 30
Wuhan 30
Dong Ket 29
Amsterdam 28
Nürnberg 28
Atlanta 25
Chicago 25
Tokyo 25
Warsaw 25
Mountain View 23
University Park 23
Los Angeles 21
Muizenberg 19
San Francisco 19
Seongnam 19
Pisa 18
Changsha 17
Duncan 17
Leawood 17
Phoenix 17
Rochester 16
Madrid 15
San Diego 15
Toronto 15
Bengaluru 14
Hangzhou 13
Ottawa 13
Shenyang 13
Las Vegas 12
Milan 12
Nanjing 12
Bari 11
Dublin 11
Lake Forest 11
London 11
Melbourne 11
Seoul 11
Berlin 10
Clearwater 10
Philadelphia 10
Riva 10
Barcelona 9
Bonn 9
Manchester 9
Menlo Park 9
Paris 9
Rome 9
Salt Lake City 9
Boston 8
Dearborn 8
Heidelberg 8
Helsinki 8
Istanbul 8
Burlington 7
Cupertino 7
Denver 7
Madison 7
Rotterdam 7
Vienna 7
Albany 6
Athens 6
Boardman 6
Bogotá 6
Bologna 6
Central 6
Dallas 6
Henderson 6
Modena 6
Padova 6
Rocky River 6
Stockholm 6
Summerville 6
Taipei 6
Turin 6
Acton 5
Cincinnati 5
Delhi 5
Des Moines 5
Frankfurt am Main 5
Fuzhou 5
Karachi 5
Kumar 5
Montreal 5
Mumbai 5
Sankt Ingbert 5
Scarborough 5
Totale 2.591
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Nome #
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment, file e27ce426-d46d-2581-e053-d805fe0acbaa 1.001
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type., file e27ce426-f118-2581-e053-d805fe0acbaa 385
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?, file e27ce427-03c5-2581-e053-d805fe0acbaa 374
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria, file e27ce428-9a90-2581-e053-d805fe0acbaa 330
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns, file e27ce426-f685-2581-e053-d805fe0acbaa 320
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans, file e27ce428-ba09-2581-e053-d805fe0acbaa 278
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia, file e27ce426-f87b-2581-e053-d805fe0acbaa 250
Mapping and phasing of structural variation in patient genomes using nanopore sequencing, file e27ce42b-e061-2581-e053-d805fe0acbaa 228
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation., file e27ce427-102a-2581-e053-d805fe0acbaa 221
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes, file e27ce42b-f0f5-2581-e053-d805fe0acbaa 180
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients., file e27ce427-0b4c-2581-e053-d805fe0acbaa 173
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome, file e27ce42b-43bb-2581-e053-d805fe0acbaa 171
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH., file e27ce427-03be-2581-e053-d805fe0acbaa 166
NOTCH3 gene mutations in subjects clinically suspected of CADASIL, file e27ce429-a0f7-2581-e053-d805fe0acbaa 164
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type I, file e27ce426-c739-2581-e053-d805fe0acbaa 163
In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis, file e27ce42b-baf7-2581-e053-d805fe0acbaa 135
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity., file e27ce427-30b4-2581-e053-d805fe0acbaa 107
GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS., file e27ce429-9b61-2581-e053-d805fe0acbaa 99
S81 L and G170R mutations causing Primary Hyperoxaluria Type I in homozygosis and heterozygosis: an example of positive interallelic complementation., file e27ce426-f116-2581-e053-d805fe0acbaa 98
GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS., file e27ce427-03c6-2581-e053-d805fe0acbaa 55
BCLI POLYMORPHISM OF THE GLUCOCORTICOID RECEPTOR GENE IS ASSOCIATED WITH INCREASED OBESITY, IMPAIRED GLUCOSE TOLERANCE AND DYSLIPIDEMIA IN PATIENTS WITH ADDISON’S DISEASE, file e27ce429-8529-2581-e053-d805fe0acbaa 42
S81 L and G170R mutations causing Primary Hyperoxaluria Type I in homozygosis and heterozygosis: an example of positive interallelic complementation., file e27ce429-9935-2581-e053-d805fe0acbaa 40
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity., file e27ce429-a76a-2581-e053-d805fe0acbaa 16
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy, file e27ce434-b0ae-2581-e053-d805fe0acbaa 13
Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease, file e27ce434-b127-2581-e053-d805fe0acbaa 8
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH), file e27ce433-df5d-2581-e053-d805fe0acbaa 7
Combined liver kidney transplantation for primary hyperoxaluria type 1: Will there still be a future? Current transplantation strategies and monocentric experience, file e27ce435-9921-2581-e053-d805fe0acbaa 6
A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis, file b135c539-7b6a-4dbc-9ae2-fc1093b98a4a 3
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH), file e27ce42c-ab94-2581-e053-d805fe0acbaa 2
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns, file e27ce426-f6ec-2581-e053-d805fe0acbaa 1
BCLI POLYMORPHISM OF THE GLUCOCORTICOID RECEPTOR GENE IS ASSOCIATED WITH INCREASED OBESITY, IMPAIRED GLUCOSE TOLERANCE AND DYSLIPIDEMIA IN PATIENTS WITH ADDISON’S DISEASE, file e27ce429-a6b7-2581-e053-d805fe0acbaa 1
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies, file e27ce42b-2170-2581-e053-d805fe0acbaa 1
Combined liver kidney transplantation for primary hyperoxaluria type 1: Will there still be a future? Current transplantation strategies and monocentric experience, file e27ce432-bf3a-2581-e053-d805fe0acbaa 1
Totale 5.039
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Categoria #
all - tutte 6.632
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 6.632
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019258 0 0 0 0 0 0 0 0 0 0 146 112
2019/2020995 81 77 71 146 101 73 87 79 88 67 57 68
2020/2021918 50 71 76 65 70 73 84 69 89 84 71 116
2021/2022951 73 57 63 147 87 70 91 50 45 54 144 70
2022/2023624 29 47 123 93 58 53 53 51 36 56 22 3
2023/202482 4 3 10 2 9 3 24 10 5 9 3 0
Totale 5.039