IRIS
FRISSO, GIULIA
 Distribuzione geografica
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Continente #
EU - Europa 7.251
AS - Asia 6.147
NA - Nord America 5.648
SA - Sud America 767
AF - Africa 139
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 3
Totale 19.970
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Nazione #
US - Stati Uniti d'America 5.432
IT - Italia 3.724
SG - Singapore 2.640
RU - Federazione Russa 1.788
CN - Cina 1.184
VN - Vietnam 1.174
BR - Brasile 628
HK - Hong Kong 476
NL - Olanda 383
FR - Francia 262
DE - Germania 254
GB - Regno Unito 147
FI - Finlandia 138
JP - Giappone 132
UA - Ucraina 130
IN - India 121
CA - Canada 113
IE - Irlanda 94
SE - Svezia 67
MX - Messico 63
PL - Polonia 63
AR - Argentina 53
BD - Bangladesh 53
KR - Corea 53
ZA - Sudafrica 45
ES - Italia 44
TH - Thailandia 35
AT - Austria 34
PH - Filippine 34
CI - Costa d'Avorio 33
IQ - Iraq 33
ID - Indonesia 32
TR - Turchia 28
EC - Ecuador 27
BE - Belgio 26
AE - Emirati Arabi Uniti 18
CH - Svizzera 18
TW - Taiwan 18
PK - Pakistan 17
LT - Lituania 16
CO - Colombia 15
AU - Australia 14
VE - Venezuela 14
MA - Marocco 13
IL - Israele 11
SA - Arabia Saudita 11
EG - Egitto 10
PT - Portogallo 10
CL - Cile 9
JM - Giamaica 9
RO - Romania 9
LB - Libano 8
MY - Malesia 8
UY - Uruguay 8
UZ - Uzbekistan 8
ET - Etiopia 7
KZ - Kazakistan 7
TN - Tunisia 7
AZ - Azerbaigian 6
GE - Georgia 6
JO - Giordania 6
GR - Grecia 5
IR - Iran 5
PE - Perù 5
CR - Costa Rica 4
DZ - Algeria 4
GT - Guatemala 4
LV - Lettonia 4
NO - Norvegia 4
NP - Nepal 4
OM - Oman 4
AL - Albania 3
BF - Burkina Faso 3
BG - Bulgaria 3
BY - Bielorussia 3
CZ - Repubblica Ceca 3
DK - Danimarca 3
DM - Dominica 3
DO - Repubblica Dominicana 3
HN - Honduras 3
HU - Ungheria 3
KG - Kirghizistan 3
LC - Santa Lucia 3
PA - Panama 3
PY - Paraguay 3
RS - Serbia 3
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
BO - Bolivia 2
BW - Botswana 2
CW - ???statistics.table.value.countryCode.CW??? 2
CY - Cipro 2
GN - Guinea 2
GY - Guiana 2
HR - Croazia 2
HT - Haiti 2
KE - Kenya 2
KW - Kuwait 2
NI - Nicaragua 2
PS - Palestinian Territory 2
Totale 19.942
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Città #
Singapore 1.260
San Jose 888
Ashburn 476
Hong Kong 456
Moscow 424
Chandler 406
Naples 399
Beijing 391
Ho Chi Minh City 294
Hanoi 279
Rome 263
Amsterdam 253
Santa Clara 241
Milan 235
Hefei 214
Los Angeles 175
Lauterbourg 131
The Dalles 131
Millbury 118
Dong Ket 112
Tokyo 108
Napoli 105
Dallas 98
Council Bluffs 97
New York 91
Boston 85
Jacksonville 82
Princeton 82
Palermo 66
Des Moines 63
São Paulo 60
Buffalo 59
Bologna 57
Wilmington 57
Da Nang 56
Nanjing 55
Redondo Beach 54
Florence 52
Lawrence 46
Munich 45
Seoul 41
Orem 39
Chicago 37
Turin 37
Denver 36
Frankfurt am Main 36
Warsaw 35
Catania 34
Houston 34
Brooklyn 33
Haiphong 33
Ottawa 33
Nuremberg 31
Stockholm 30
Seattle 29
Bari 28
Montreal 27
Mexico City 25
Manchester 24
Mumbai 24
Nanchang 24
Augusta 23
Johannesburg 23
London 23
Helsinki 22
Phoenix 22
Atlanta 21
Chennai 21
Lappeenranta 21
Falls Church 20
Padova 20
San Francisco 20
Toronto 20
Boardman 19
Shenyang 19
Biên Hòa 18
Dublin 18
Oristano 18
Poplar 18
Redwood City 18
Rio de Janeiro 18
Woodbridge 18
Ankara 17
Turku 17
Ann Arbor 16
Monza 16
Vienna 16
Cagliari 15
Belo Horizonte 14
Can Tho 14
Hebei 14
Kronberg 14
Genoa 13
Jiaxing 13
Perugia 13
Pescara 13
Washington 13
Baltimore 12
Bolzano 12
Brasília 12
Totale 9.908
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Nome #
Deficit di 3-Metilcrotonil-CoA Carbossilasi: identificazione di due nuove mutazioni 1.629
Screening delle mutazioni del gene MYH7 in una popolazione pediatrica affetta da cardiomiopatia ipertrofica 1.590
First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature 223
The Biological Role of Vitamins in Athletes’ Muscle, Heart and Microbiota 220
Mutation screening of dynein genes in patients affected by primary ciliary diskinesia or Kartagener syndrome 214
HNP-1 and HBD-1 as biomarkers for the immune systems of elite basketball athletes 179
A child cohort study from South Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy 169
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 169
Exercise, immune system, nutrition, respiratory and cardiovascular diseases during COVID-19: A complex combination 167
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies 166
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center 165
Laboratory medicine: health evaluation in elite athletes 165
Clinical molecular biology in the assessment and prevention of cardiological risk in case of participation in sports activity and intense physical activity 160
Athlete's Passport: Prevention of Infections, Inflammations, Injuries and Cardiovascular Diseases 158
Hypermethioninemia in Campania: Results from 10 years of newborn screening 157
Urinary biomarkers: Diagnostic tools for monitoring athletes’ health status 157
Yield and clinical significance of genetic screening in elite and amateur athletes 155
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 153
Genotype-phenotype correlation: A triple DNA mutational event in a boy entering sport conveys an additional pathogenicity risk 152
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 152
Mild dehydration in dyspeptic athletes is able to increase gastrointestinal symptoms: Protective effects of an appropriate hydration 150
Cardiac ion channel genes analysis in LQTS or Brugada families of Southern Italy revealed nineteen mutations, including nine novel ones 147
Diagnostic and Therapeutic Potential for HNP-1, HBD-1 and HBD-4 in Pregnant Women with COVID-19 146
A real benefit of an extended neonatal screening 146
Thrombosis and Thrombotic Risk in Athletes 145
Mutation screening in sarcomeric genes in Italian HCM paediatric population 145
Digenic heterozygosity in KCNQ1 and KCNH2 genes causes severe long QT phenotype 144
DNA Sequence Capture and High Throughput Sequencing Technology: a Novel Approach to Identify a Large Number of Hypertrophic Cardiomyopathy-causing Genes 144
Evaluation of Antioxidant Defence Systems and Inflammatory Status in Basketball Elite Athletes 143
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy 142
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization 142
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 141
Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers 140
Dietary thiols: A potential supporting strategy against oxidative stress in heart failure and muscular damage during sports activity 139
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 138
The Impact of Physical Exercise on Obesity in a Cohort of Southern Italian Obese Children: Improvement in Cardiovascular Risk and Immune System Biomarkers 137
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from southern Italy. 137
DNA sequence capture and high-throughput sequencing technology: a novel approach to identify a large number of hypertrophic cardiomyopathy-causing genes 137
Molecular analysis has allowed the definitive diagnosis of multiple acyl-CoA dehydrogenase deficiency (MADD) 136
Rapid detection of short tandem repeat (STRs) alleles for linkage analysis and for localization of intragenic recombination in the dystrophin gene. 135
Episodi ricorrenti d rabdomiolisi secondari a difetto della beta-ossidazione degli acidi grassi. 135
The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches 135
Sarcomeric versus Non-Sarcomeric HCM 134
Analysis of macrodeletions in the dystrophin gene in patients from southern Italy and correlation between genotype and phenotype. The presence/absence of the III hinge region of the dystrophin protein affects the phenotype. 132
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome 132
Characterization of cholesterol biosynthesis defects: a new case of sterol-C4-methyl oxidase deficiency in Italy 130
Biochemical and genetic characterization of a cholesterol biosynthesis defect: a new case of sterol-C4-methyl oxidase defect in a young Italian male 129
Molecular diagnosis of Brugada syndrome via next-generation sequencing of a multigene panel in a young athlete 129
Childhood obesity: an overview of laboratory medicine, exercise and microbiome 129
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 129
Analisi molecolare di geni di malattie ereditarie: dalla diagnosi anche prenatale alla struttura proteica 128
DNA Sequence Capture and Next-Generation Sequencing for the Molecular Diagnosis of Genetic Cardiomyopathies 127
Methicillin-Resistant Staphylococcus aureus: Risk for General Infection and Endocarditis Among Athletes 127
Correlation between phenotype and CTG repeats in myotonic dystrophy patients from southern Italy. 125
A new case of Congenital Hyperinsulinemic Hypoglycemia due to M/SCHAD deficiency: the contribution of metabolic and molecular diagnosis for the management 123
A new case of M/SCHAD deficiency: The contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management 123
Characterization of deletion breakpoints within intron 50 and 51 of the dystrophin gene 122
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project 120
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency 119
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method 117
Mitochondrial M.T4216C (P.Y304h) and M.A4917G, (P.N150D) variations In a young patient with Maternally Inherited Diabetes and Deafness 117
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl 117
Association of H558R Polymorphism In SCN5A Gene With Familial Dilated Cardiomyopathy 117
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 117
Preliminary study on the role of human defensins, interleukins and PCSK9 in early and late preeclampsia 117
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 116
Desmosomes in heart and skin: friends or foes? 115
Pattern of dystrophin gene macrodeletions in Duchenne and Becker muscular dystrophy patients form southern Italy. 114
Genetic Pre-Participation Screening in Selected Athletes: A New Tool for the Prevention of Sudden Cardiac Death? 114
A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females 113
The novel hh1 n1472del mutation in a long QT patient shows mixed biophysical properties 113
Mutazioni a differente esito nella metilmalonico acidemia di tipo mut0 ripropongono il problema del timing nello screening metabolico allargato 113
Multidisciplinary in-depth investigation in a young athlete suffering from syncope caused by myocardial bridge 113
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes 112
Integrated Approach to Highlighting the Molecular Bases of a Deep Vein Thrombosis Event in an Elite Basketball Athlete 112
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 112
An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test 111
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 110
The CEINGE Biobank of biological samples: storage and management 109
Effects of the covid-19 pandemic on job activity, dietary behaviours and physical activity habits of university population of Naples, federico ii-Italy 109
Cardiac ion channel genes analysis in LQTS families of southern Italy revealed eight mutations, including three novel ones 108
Characterization of Hypertrophic Cardiomyopathy Caused by Mutations in Four and a Half Lim Domains 1 Gene 106
Impact of molecular diagnostics in an asymptomatic amateur athlete found to be affected by hypertrophic cardiomyopathy 106
Cardiac organoids towards iPSC exploitation for a novel personalized medicine approach to arrhythmogenic Cardiomyopathy 105
How Does Physical Activity Modulate Hormone Responses? 105
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 104
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 104
Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy. 103
The hidden fragility in the heart of the athletes: A review of genetic biomarkers 101
Cardiomyopathies & Heart failure 2008. When and who: genetic testing” 100
Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors 100
Genetic Pre-Participation Screening in Selected Athletes: How can help for the Prevention of Sudden Cardiac Death? 99
A common polymorphism in SCN5A gene is associated with dilated cardiomyopathy 98
Prenatal diagnosis of inherited diseases: 20 years? experience of an Italian Regional Reference Centre 98
Mechano-energetic efficiency in patients with hypertrophic cardiomyopathy with and without sarcomeric mutations 96
A Quantitative Polymerase Chain Reaction (PCR) Assay Completely Discriminates between Duchenne and Becker Muscular Dystrophy Deletion Carriers and Normal Females. 96
Physical activity and thrombophilic risk in a short series 96
Novel deletion at promoters M and P of the human dystrophin gene linked to an atypical phenotype 95
A larger spectrum of intragenic STRs improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from Southern Italy. J. Mol. Diagn. 95
Ruolo dell'analisi genetica in cardiologia: le cardiomiopatie 95
Totale 15.960
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Categoria #
all - tutte 54.301
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 54.301
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021270 0 0 0 0 0 0 0 0 0 0 116 154
2021/20221.060 50 24 38 51 41 41 28 54 116 82 225 310
2022/20231.569 141 116 48 94 162 123 45 178 217 276 116 53
2023/20241.548 105 156 215 146 108 116 79 113 71 139 175 125
2024/20255.018 266 314 107 108 206 312 537 324 427 511 1.507 399
2025/20269.061 927 730 974 1.029 1.565 373 1.010 537 1.056 682 178 0
Totale 20.302