IRIS
FRISSO, GIULIA
 Distribuzione geografica
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Continente #
EU - Europa 6.814
AS - Asia 4.723
NA - Nord America 4.169
SA - Sud America 722
AF - Africa 118
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 3
Totale 16.564
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Nazione #
US - Stati Uniti d'America 3.987
IT - Italia 3.549
SG - Singapore 2.505
RU - Federazione Russa 1.787
CN - Cina 1.038
BR - Brasile 601
HK - Hong Kong 404
VN - Vietnam 401
NL - Olanda 364
DE - Germania 230
GB - Regno Unito 132
UA - Ucraina 127
FI - Finlandia 126
CA - Canada 99
FR - Francia 95
IE - Irlanda 92
IN - India 87
SE - Svezia 66
PL - Polonia 58
MX - Messico 52
AR - Argentina 50
ES - Italia 43
JP - Giappone 42
ZA - Sudafrica 42
KR - Corea 40
BD - Bangladesh 35
AT - Austria 33
CI - Costa d'Avorio 32
BE - Belgio 25
TR - Turchia 24
EC - Ecuador 23
ID - Indonesia 23
CH - Svizzera 17
IQ - Iraq 17
LT - Lituania 15
AU - Australia 14
CO - Colombia 13
VE - Venezuela 12
IL - Israele 11
PT - Portogallo 10
MA - Marocco 9
PK - Pakistan 9
RO - Romania 9
AE - Emirati Arabi Uniti 8
SA - Arabia Saudita 8
UY - Uruguay 8
UZ - Uzbekistan 8
CL - Cile 7
LB - Libano 7
EG - Egitto 6
GE - Georgia 6
KZ - Kazakistan 6
AZ - Azerbaigian 5
GR - Grecia 5
IR - Iran 5
JO - Giordania 5
MY - Malesia 5
DZ - Algeria 4
GT - Guatemala 4
LV - Lettonia 4
NO - Norvegia 4
TH - Thailandia 4
TN - Tunisia 4
AL - Albania 3
BY - Bielorussia 3
CZ - Repubblica Ceca 3
DK - Danimarca 3
DM - Dominica 3
DO - Repubblica Dominicana 3
ET - Etiopia 3
HN - Honduras 3
JM - Giamaica 3
KG - Kirghizistan 3
LC - Santa Lucia 3
PA - Panama 3
PH - Filippine 3
PY - Paraguay 3
BF - Burkina Faso 2
BG - Bulgaria 2
BO - Bolivia 2
BW - Botswana 2
CR - Costa Rica 2
CW - ???statistics.table.value.countryCode.CW??? 2
GN - Guinea 2
HR - Croazia 2
HT - Haiti 2
HU - Ungheria 2
KW - Kuwait 2
NI - Nicaragua 2
OM - Oman 2
PE - Perù 2
PS - Palestinian Territory 2
RS - Serbia 2
RW - Ruanda 2
SN - Senegal 2
TL - Timor Orientale 2
TW - Taiwan 2
BB - Barbados 1
BH - Bahrain 1
CM - Camerun 1
Totale 16.546
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Città #
Singapore 1.156
Moscow 424
Chandler 406
Hong Kong 397
Ashburn 375
Naples 371
Beijing 364
Rome 255
Amsterdam 247
Santa Clara 232
Milan 222
Hefei 213
Los Angeles 161
Millbury 118
Dong Ket 112
Napoli 105
Dallas 96
Ho Chi Minh City 96
Boston 84
Jacksonville 82
Princeton 81
New York 73
Hanoi 72
Des Moines 62
Palermo 60
Bologna 57
Wilmington 57
São Paulo 56
Nanjing 55
Redondo Beach 54
Buffalo 50
Florence 49
Lawrence 46
Munich 45
Seoul 40
San Jose 38
Turin 37
Ottawa 33
Tokyo 33
Chicago 32
Warsaw 32
Denver 31
Houston 31
Catania 30
Stockholm 29
Brooklyn 28
Orem 28
Nuremberg 27
Seattle 27
Montreal 26
Nanchang 24
Bari 23
Manchester 23
Mexico City 23
Augusta 21
Frankfurt am Main 21
Johannesburg 21
London 21
Mumbai 21
Phoenix 21
Council Bluffs 20
Falls Church 20
Padova 20
Boardman 19
Chennai 19
Helsinki 19
Shenyang 19
The Dalles 19
Oristano 18
Redwood City 18
Woodbridge 18
Poplar 17
Rio de Janeiro 17
Turku 17
Ankara 16
Ann Arbor 16
Dublin 16
Vienna 16
Atlanta 15
Cagliari 15
Monza 15
San Francisco 15
Hebei 14
Kronberg 14
Toronto 14
Belo Horizonte 13
Genoa 13
Jiaxing 13
Lappeenranta 13
Bolzano 12
Brasília 12
Da Nang 12
Falkenstein 12
Haiphong 12
Norwalk 12
Parma 12
Pescara 12
Washington 12
Baltimore 11
Caserta 11
Totale 7.662
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Nome #
Deficit di 3-Metilcrotonil-CoA Carbossilasi: identificazione di due nuove mutazioni 1.553
Screening delle mutazioni del gene MYH7 in una popolazione pediatrica affetta da cardiomiopatia ipertrofica 1.513
Mutation screening of dynein genes in patients affected by primary ciliary diskinesia or Kartagener syndrome 197
The Biological Role of Vitamins in Athletes’ Muscle, Heart and Microbiota 183
A child cohort study from South Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy 150
First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature 146
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies 144
HNP-1 and HBD-1 as biomarkers for the immune systems of elite basketball athletes 143
Exercise, immune system, nutrition, respiratory and cardiovascular diseases during COVID-19: A complex combination 138
Laboratory medicine: health evaluation in elite athletes 134
Athlete's Passport: Prevention of Infections, Inflammations, Injuries and Cardiovascular Diseases 133
Urinary biomarkers: Diagnostic tools for monitoring athletes’ health status 131
Clinical molecular biology in the assessment and prevention of cardiological risk in case of participation in sports activity and intense physical activity 130
Genotype-phenotype correlation: A triple DNA mutational event in a boy entering sport conveys an additional pathogenicity risk 128
Cardiac ion channel genes analysis in LQTS or Brugada families of Southern Italy revealed nineteen mutations, including nine novel ones 126
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 126
Evaluation of Antioxidant Defence Systems and Inflammatory Status in Basketball Elite Athletes 125
Hypermethioninemia in Campania: Results from 10 years of newborn screening 125
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 125
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center 123
Yield and clinical significance of genetic screening in elite and amateur athletes 122
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 121
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization 121
Mild dehydration in dyspeptic athletes is able to increase gastrointestinal symptoms: Protective effects of an appropriate hydration 121
Dietary thiols: A potential supporting strategy against oxidative stress in heart failure and muscular damage during sports activity 121
A real benefit of an extended neonatal screening 120
Thrombosis and Thrombotic Risk in Athletes 119
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy 118
Diagnostic and Therapeutic Potential for HNP-1, HBD-1 and HBD-4 in Pregnant Women with COVID-19 118
Mutation screening in sarcomeric genes in Italian HCM paediatric population 118
Episodi ricorrenti d rabdomiolisi secondari a difetto della beta-ossidazione degli acidi grassi. 117
The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches 116
Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers 113
DNA sequence capture and high-throughput sequencing technology: a novel approach to identify a large number of hypertrophic cardiomyopathy-causing genes 113
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 113
Digenic heterozygosity in KCNQ1 and KCNH2 genes causes severe long QT phenotype 112
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. 111
Molecular analysis has allowed the definitive diagnosis of multiple acyl-CoA dehydrogenase deficiency (MADD) 111
The Impact of Physical Exercise on Obesity in a Cohort of Southern Italian Obese Children: Improvement in Cardiovascular Risk and Immune System Biomarkers 110
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from southern Italy. 110
DNA Sequence Capture and High Throughput Sequencing Technology: a Novel Approach to Identify a Large Number of Hypertrophic Cardiomyopathy-causing Genes 109
Characterization of cholesterol biosynthesis defects: a new case of sterol-C4-methyl oxidase deficiency in Italy 109
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome 109
Sarcomeric versus Non-Sarcomeric HCM 108
Methicillin-Resistant Staphylococcus aureus: Risk for General Infection and Endocarditis Among Athletes 108
Characterization of deletion breakpoints within intron 50 and 51 of the dystrophin gene 107
DNA Sequence Capture and Next-Generation Sequencing for the Molecular Diagnosis of Genetic Cardiomyopathies 106
Molecular diagnosis of Brugada syndrome via next-generation sequencing of a multigene panel in a young athlete 106
Correlation between phenotype and CTG repeats in myotonic dystrophy patients from southern Italy. 105
Biochemical and genetic characterization of a cholesterol biosynthesis defect: a new case of sterol-C4-methyl oxidase defect in a young Italian male 104
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl 104
A new case of Congenital Hyperinsulinemic Hypoglycemia due to M/SCHAD deficiency: the contribution of metabolic and molecular diagnosis for the management 104
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 104
Analisi molecolare di geni di malattie ereditarie: dalla diagnosi anche prenatale alla struttura proteica 103
Childhood obesity: an overview of laboratory medicine, exercise and microbiome 101
Rapid detection of short tandem repeat (STRs) alleles for linkage analysis and for localization of intragenic recombination in the dystrophin gene. 100
Mitochondrial M.T4216C (P.Y304h) and M.A4917G, (P.N150D) variations In a young patient with Maternally Inherited Diabetes and Deafness 100
Association of H558R Polymorphism In SCN5A Gene With Familial Dilated Cardiomyopathy 100
Desmosomes in heart and skin: friends or foes? 99
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method 98
A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females 97
A new case of M/SCHAD deficiency: The contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management 96
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes 95
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 95
Integrated Approach to Highlighting the Molecular Bases of a Deep Vein Thrombosis Event in an Elite Basketball Athlete 94
The CEINGE Biobank of biological samples: storage and management 94
The novel hh1 n1472del mutation in a long QT patient shows mixed biophysical properties 94
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 94
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency 94
Effects of the covid-19 pandemic on job activity, dietary behaviours and physical activity habits of university population of Naples, federico ii-Italy 94
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project 93
Cardiac organoids towards iPSC exploitation for a novel personalized medicine approach to arrhythmogenic Cardiomyopathy 93
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 93
An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test 91
Pattern of dystrophin gene macrodeletions in Duchenne and Becker muscular dystrophy patients form southern Italy. 91
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 91
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 88
Genetic Pre-Participation Screening in Selected Athletes: A New Tool for the Prevention of Sudden Cardiac Death? 88
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 88
Multidisciplinary in-depth investigation in a young athlete suffering from syncope caused by myocardial bridge 88
Preliminary study on the role of human defensins, interleukins and PCSK9 in early and late preeclampsia 87
Characterization of Hypertrophic Cardiomyopathy Caused by Mutations in Four and a Half Lim Domains 1 Gene 86
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 86
Alterazioni della forma R del gene della piruvato chinasi: presenza di una nuova mutazione (G 1523) e bassa frequenza della A 1529 in un campione dell'Italia meridionale 86
Novel deletion at promoters M and P of the human dystrophin gene linked to an atypical phenotype 85
Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy. 84
Cardiac ion channel genes analysis in LQTS families of southern Italy revealed eight mutations, including three novel ones 84
Mutazioni a differente esito nella metilmalonico acidemia di tipo mut0 ripropongono il problema del timing nello screening metabolico allargato 83
Impact of molecular diagnostics in an asymptomatic amateur athlete found to be affected by hypertrophic cardiomyopathy 83
The hidden fragility in the heart of the athletes: A review of genetic biomarkers 83
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. 82
Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors 82
Cardiomyopathies & Heart failure 2008. When and who: genetic testing” 81
Rapid screening by Surveyor Nuclease-based mutation detection for BRCA1 and BRCA2 genes 81
A common polymorphism in SCN5A gene is associated with dilated cardiomyopathy 81
Novel mutations and structural implications in R-type pyruvate chinase-deficient patients from Southern Italy 79
A Quantitative Polymerase Chain Reaction (PCR) Assay Completely Discriminates between Duchenne and Becker Muscular Dystrophy Deletion Carriers and Normal Females. 79
Ruolo dell'analisi genetica in cardiologia: le cardiomiopatie 79
Genetic Pre-Participation Screening in Selected Athletes: How can help for the Prevention of Sudden Cardiac Death? 79
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 78
Totale 13.481
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Categoria #
all - tutte 48.194
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 48.194
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021453 0 0 0 0 0 0 65 24 66 28 116 154
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
2025/20265.652 927 730 974 1.029 1.565 373 54 0 0 0 0 0
Totale 16.893