CINECA IRIS Institutional Research Information System

GIACHINO, Daniela Francesca
 Distribuzione geografica
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Continente #
NA - Nord America 3.209
EU - Europa 1.853
AS - Asia 904
SA - Sud America 57
OC - Oceania 52
AF - Africa 42
Continente sconosciuto - Info sul continente non disponibili 2
Totale 6.119
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Nazione #
US - Stati Uniti d'America 3.138
DE - Germania 617
CN - Cina 490
IT - Italia 442
GB - Regno Unito 131
FR - Francia 129
VN - Vietnam 74
JP - Giappone 69
NL - Olanda 67
CA - Canada 63
IN - India 61
ES - Italia 54
DK - Danimarca 53
KR - Corea 48
PL - Polonia 47
CZ - Repubblica Ceca 46
AU - Australia 42
FI - Finlandia 42
RU - Federazione Russa 42
CH - Svizzera 36
TR - Turchia 32
BR - Brasile 31
ID - Indonesia 30
ZA - Sudafrica 29
HK - Hong Kong 25
TW - Taiwan 23
RO - Romania 19
IE - Irlanda 18
GR - Grecia 16
UA - Ucraina 16
CL - Cile 14
LT - Lituania 14
BE - Belgio 13
PT - Portogallo 11
NZ - Nuova Zelanda 10
SE - Svezia 10
AT - Austria 8
SA - Arabia Saudita 8
SG - Singapore 7
AE - Emirati Arabi Uniti 6
PK - Pakistan 6
KH - Cambogia 5
MX - Messico 5
NO - Norvegia 5
AR - Argentina 4
IL - Israele 4
IQ - Iraq 4
IR - Iran 4
BY - Bielorussia 3
CO - Colombia 3
EG - Egitto 3
HU - Ungheria 3
TH - Thailandia 3
BO - Bolivia 2
CY - Cipro 2
ET - Etiopia 2
HR - Croazia 2
IS - Islanda 2
KE - Kenya 2
LV - Lettonia 2
NP - Nepal 2
SC - Seychelles 2
SI - Slovenia 2
TN - Tunisia 2
A1 - Anonimo 1
AL - Albania 1
AN - Antille olandesi 1
BD - Bangladesh 1
BG - Bulgaria 1
DZ - Algeria 1
EU - Europa 1
GY - Guiana 1
ME - Montenegro 1
NG - Nigeria 1
PR - Porto Rico 1
PY - Paraguay 1
TC - Turks e Caicos 1
VE - Venezuela 1
Totale 6.119
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Città #
Fairfield 365
Woodbridge 263
Houston 225
Ashburn 201
Santa Cruz 188
Buffalo 183
Seattle 180
Cambridge 141
Ann Arbor 124
Wilmington 121
Torino 93
Beijing 74
Dong Ket 56
Guangzhou 55
Shenyang 48
University Park 47
Lyngby 45
Nürnberg 43
Los Angeles 38
Changsha 36
Wuhan 35
Chicago 33
San Diego 31
Shanghai 30
Warsaw 30
Amsterdam 28
Mountain View 28
Lappeenranta 27
Ottawa 27
Pisa 27
Muizenberg 26
Columbus 24
Las Vegas 23
Tokyo 19
New York 18
Phoenix 18
Frankfurt am Main 16
Bengaluru 14
Rochester 14
Atlanta 13
Chengdu 13
Clearwater 13
Hangzhou 13
Lake Forest 13
Rome 13
Cardiff 12
Leawood 12
Milan 12
Taipei 12
Boardman 11
Dublin 11
Henderson 11
Lausanne 11
Toronto 11
Turin 11
Xian 11
Bologna 10
Istanbul 10
Riva 10
Harbin 9
Hebei 9
Heidelberg 9
Helsinki 9
Madrid 9
Bethesda 8
Central District 8
Des Moines 8
Nanjing 8
Padova 8
Paris 8
Bari 7
Berlin 7
Chongqing 7
Dallas 7
Dresden 7
Jinan 7
Kunming 7
Parabiago 7
Sydney 7
London 6
Manchester 6
Modena 6
Naples 6
Seoul 6
Summerville 6
Vienna 6
Yokohama 6
Bochum 5
Boston 5
Central 5
Council Bluffs 5
Dearborn 5
Denver 5
Duncan 5
Edinburgh 5
Encino 5
Monte San Pietro 5
Polska 5
Redmond 5
Salt Lake City 5
Totale 3.496
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Nome #
RAS mutations are the predominant molecular alteration in poorly differentiated thyroid carcinomas and bear prognostic impact, file e27ce426-adfa-2581-e053-d805fe0acbaa 505
Analysis of BCLI, N363S and ER22/23EK polymorphisms of the glucocorticoid receptor gene in adrenal incidentalomas, file e27ce42a-47fd-2581-e053-d805fe0acbaa 355
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria, file e27ce428-9a90-2581-e053-d805fe0acbaa 330
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations, file e27ce42f-b752-2581-e053-d805fe0acbaa 288
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans, file e27ce428-ba09-2581-e053-d805fe0acbaa 278
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome, file e27ce426-b37e-2581-e053-d805fe0acbaa 270
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia, file e27ce426-f87b-2581-e053-d805fe0acbaa 250
Usefulness of exercise test in the diagnosis of short QT syndrome, file e27ce42a-59e5-2581-e053-d805fe0acbaa 244
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 222
Mammalian target of rapamycin pathway activation is associated to RET mutation status in medullary thyroid carcinoma., file e27ce426-dc64-2581-e053-d805fe0acbaa 218
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis., file e27ce42d-317c-2581-e053-d805fe0acbaa 214
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study, file e27ce42c-b972-2581-e053-d805fe0acbaa 181
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
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma, file e27ce426-d995-2581-e053-d805fe0acbaa 179
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients., file e27ce427-0b4c-2581-e053-d805fe0acbaa 174
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome, file e27ce42b-43bb-2581-e053-d805fe0acbaa 172
NOTCH3 gene mutations in subjects clinically suspected of CADASIL, file e27ce429-a0f7-2581-e053-d805fe0acbaa 164
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms., file e27ce426-dd26-2581-e053-d805fe0acbaa 159
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals, file e27ce42f-76b4-2581-e053-d805fe0acbaa 159
Detection and characterization of classical and "uncommon" exon 19 Epidermal Growth Factor Receptor mutations in lung cancer by pyrosequencing, file e27ce426-e128-2581-e053-d805fe0acbaa 141
The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene, file e27ce42b-6578-2581-e053-d805fe0acbaa 138
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child, file e27ce42c-225c-2581-e053-d805fe0acbaa 124
Workload measurement for molecular genetics laboratory: A survey study, file e27ce42d-88bf-2581-e053-d805fe0acbaa 113
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience, file e27ce432-5efb-2581-e053-d805fe0acbaa 111
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity., file e27ce427-30b4-2581-e053-d805fe0acbaa 108
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants, file e27ce42f-061c-2581-e053-d805fe0acbaa 103
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations, file e27ce430-8893-2581-e053-d805fe0acbaa 103
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
Genotype-Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene, file e27ce42e-774d-2581-e053-d805fe0acbaa 90
Atrial fibrillation in a large population with Brugada electrocardiographic pattern: prevalence, management, and correlation with prognosis, file e27ce429-a6ba-2581-e053-d805fe0acbaa 77
The Role of Genetic Factors in Characterizing Extra-Intestinal Manifestations in Crohn's Disease Patients: Are Bayesian Machine Learning Methods Improving Outcome Predictions?, file e27ce42e-774e-2581-e053-d805fe0acbaa 70
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls, file e27ce431-16f6-2581-e053-d805fe0acbaa 51
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility, file e27ce434-bc7b-2581-e053-d805fe0acbaa 48
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience, file 069e3697-acbd-498c-b93c-575cb31fdc18 42
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
Effects of eight neuropsychiatric copy number variants on human brain structure, file e27ce432-dbf8-2581-e053-d805fe0acbaa 32
Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells, file e27ce429-a190-2581-e053-d805fe0acbaa 30
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity., file e27ce429-a76a-2581-e053-d805fe0acbaa 16
Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants, file 38c93520-4d89-4915-ad42-8be1c26e0167 10
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
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals, file e27ce42e-80f0-2581-e053-d805fe0acbaa 5
A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis, file b135c539-7b6a-4dbc-9ae2-fc1093b98a4a 4
Ventricular conduction delay as marker of risk in Brugada Syndrome. Results from the analysis of clinical and electrocardiographic features of a large cohort of patients, file e27ce42e-f3f6-2581-e053-d805fe0acbaa 3
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility, file 32aa1dca-17b4-4ab0-912c-161bdd33dade 2
Glucocorticoid Receptor Polymorphism A3669G Is Associated with Airflow Obstruction in Mild-to-Severe Asthma, file 5c5f4277-8bc8-4d4d-961e-fec702899adc 2
Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells, file e27ce426-bbff-2581-e053-d805fe0acbaa 2
Ventricular conduction delay as marker of risk in Brugada Syndrome. Results from the analysis of clinical and electrocardiographic features of a large cohort of patients, file e27ce42e-dd11-2581-e053-d805fe0acbaa 2
Ventricular conduction delay as marker of risk in Brugada Syndrome. Results from the analysis of clinical and electrocardiographic features of a large cohort of patients, file e27ce42e-f3fb-2581-e053-d805fe0acbaa 2
Short QT syndrome, file e27ce426-d84b-2581-e053-d805fe0acbaa 1
Atrial fibrillation in a large population with Brugada electrocardiographic pattern: prevalence, management, and correlation with prognosis, file e27ce426-fbc4-2581-e053-d805fe0acbaa 1
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms., file e27ce429-a0f4-2581-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
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals, file e27ce42e-b965-2581-e053-d805fe0acbaa 1
Ventricular conduction delay as marker of risk in Brugada Syndrome. Results from the analysis of clinical and electrocardiographic features of a large cohort of patients, file e27ce42e-f3fa-2581-e053-d805fe0acbaa 1
Totale 6.394
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Categoria #
all - tutte 9.608
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 9.608
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019309 0 0 0 0 0 0 0 0 0 0 175 134
2019/20201.094 97 73 77 152 85 75 77 97 117 93 76 75
2020/20211.412 72 143 117 76 87 135 147 102 164 131 90 148
2021/20221.224 150 75 79 153 130 50 69 74 64 62 233 85
2022/2023815 40 69 206 147 44 46 57 48 38 58 47 15
2023/2024331 11 21 40 12 27 34 47 42 19 53 25 0
Totale 6.394