IRIS
FRISSO, GIULIA
 Distribuzione geografica
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Continente #
EU - Europa 6.826
AS - Asia 4.739
NA - Nord America 4.335
SA - Sud America 723
AF - Africa 118
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 3
Totale 16.759
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Nazione #
US - Stati Uniti d'America 4.153
IT - Italia 3.559
SG - Singapore 2.509
RU - Federazione Russa 1.787
CN - Cina 1.039
BR - Brasile 601
HK - Hong Kong 410
VN - Vietnam 401
NL - Olanda 364
DE - Germania 230
GB - Regno Unito 133
UA - Ucraina 127
FI - Finlandia 126
CA - Canada 99
FR - Francia 96
IE - Irlanda 92
IN - India 89
SE - Svezia 66
PL - Polonia 58
MX - Messico 52
AR - Argentina 51
ES - Italia 43
JP - Giappone 42
ZA - Sudafrica 42
KR - Corea 40
BD - Bangladesh 36
AT - Austria 33
CI - Costa d'Avorio 32
BE - Belgio 25
ID - Indonesia 24
TR - Turchia 24
EC - Ecuador 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
PH - Filippine 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
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 16.741
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Città #
Singapore 1.160
Moscow 424
Chandler 406
Hong Kong 402
Ashburn 381
Naples 372
Beijing 364
Rome 256
Amsterdam 247
Santa Clara 233
Milan 223
Hefei 213
San Jose 168
Los Angeles 162
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
The Dalles 44
Seoul 40
Turin 37
Ottawa 33
Tokyo 33
Chicago 32
Warsaw 32
Denver 31
Houston 31
Catania 30
Orem 29
Stockholm 29
Brooklyn 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
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 7.838
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Nome #
Deficit di 3-Metilcrotonil-CoA Carbossilasi: identificazione di due nuove mutazioni 1.563
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 198
The Biological Role of Vitamins in Athletes’ Muscle, Heart and Microbiota 184
HNP-1 and HBD-1 as biomarkers for the immune systems of elite basketball athletes 153
A child cohort study from South Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy 151
First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature 150
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies 145
Exercise, immune system, nutrition, respiratory and cardiovascular diseases during COVID-19: A complex combination 139
Laboratory medicine: health evaluation in elite athletes 137
Athlete's Passport: Prevention of Infections, Inflammations, Injuries and Cardiovascular Diseases 136
Urinary biomarkers: Diagnostic tools for monitoring athletes’ health status 134
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing 130
Clinical molecular biology in the assessment and prevention of cardiological risk in case of participation in sports activity and intense physical activity 130
Hypermethioninemia in Campania: Results from 10 years of newborn screening 129
Genotype-phenotype correlation: A triple DNA mutational event in a boy entering sport conveys an additional pathogenicity risk 129
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 129
Cardiac ion channel genes analysis in LQTS or Brugada families of Southern Italy revealed nineteen mutations, including nine novel ones 128
Evaluation of Antioxidant Defence Systems and Inflammatory Status in Basketball Elite Athletes 125
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 124
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization 124
Mild dehydration in dyspeptic athletes is able to increase gastrointestinal symptoms: Protective effects of an appropriate hydration 124
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center 123
Dietary thiols: A potential supporting strategy against oxidative stress in heart failure and muscular damage during sports activity 123
Yield and clinical significance of genetic screening in elite and amateur athletes 122
A real benefit of an extended neonatal screening 121
Thrombosis and Thrombotic Risk in Athletes 120
Mutation screening in sarcomeric genes in Italian HCM paediatric population 120
Diagnostic and Therapeutic Potential for HNP-1, HBD-1 and HBD-4 in Pregnant Women with COVID-19 119
Episodi ricorrenti d rabdomiolisi secondari a difetto della beta-ossidazione degli acidi grassi. 119
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy 118
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. 117
The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches 116
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals 116
DNA sequence capture and high-throughput sequencing technology: a novel approach to identify a large number of hypertrophic cardiomyopathy-causing genes 114
Digenic heterozygosity in KCNQ1 and KCNH2 genes causes severe long QT phenotype 114
Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers 113
The Impact of Physical Exercise on Obesity in a Cohort of Southern Italian Obese Children: Improvement in Cardiovascular Risk and Immune System Biomarkers 112
Molecular analysis has allowed the definitive diagnosis of multiple acyl-CoA dehydrogenase deficiency (MADD) 111
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 110
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome 110
Correlation between phenotype and CTG repeats in myotonic dystrophy patients from southern Italy. 109
Characterization of cholesterol biosynthesis defects: a new case of sterol-C4-methyl oxidase deficiency in Italy 109
Methicillin-Resistant Staphylococcus aureus: Risk for General Infection and Endocarditis Among Athletes 109
Sarcomeric versus Non-Sarcomeric HCM 108
The tnfrsf13c h159y variant is associated with severe covid-19: A retrospective study of 500 patients from southern italy 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 107
Molecular diagnosis of Brugada syndrome via next-generation sequencing of a multigene panel in a young athlete 107
Biochemical and genetic characterization of a cholesterol biosynthesis defect: a new case of sterol-C4-methyl oxidase defect in a young Italian male 106
Rapid detection of short tandem repeat (STRs) alleles for linkage analysis and for localization of intragenic recombination in the dystrophin gene. 105
Childhood obesity: an overview of laboratory medicine, exercise and microbiome 105
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
Analisi molecolare di geni di malattie ereditarie: dalla diagnosi anche prenatale alla struttura proteica 103
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency 103
Association of H558R Polymorphism In SCN5A Gene With Familial Dilated Cardiomyopathy 102
Mitochondrial M.T4216C (P.Y304h) and M.A4917G, (P.N150D) variations In a young patient with Maternally Inherited Diabetes and Deafness 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 99
A new case of M/SCHAD deficiency: The contribution of metabolic findings in directing the definitive genetic diagnosis for an optimal management 98
A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females 97
Developmental delay, epilepsy and brain atrophy of different severity in two first cousins with methylenetetrahydrofolate reductase deficiency. 97
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 97
The CEINGE Biobank of biological samples: storage and 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
The novel hh1 n1472del mutation in a long QT patient shows mixed biophysical properties 95
Effects of the covid-19 pandemic on job activity, dietary behaviours and physical activity habits of university population of Naples, federico ii-Italy 95
Cardiac organoids towards iPSC exploitation for a novel personalized medicine approach to arrhythmogenic Cardiomyopathy 94
Integrated Approach to Highlighting the Molecular Bases of a Deep Vein Thrombosis Event in an Elite Basketball Athlete 94
Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 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
Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options 93
Pattern of dystrophin gene macrodeletions in Duchenne and Becker muscular dystrophy patients form southern Italy. 92
Genetic Pre-Participation Screening in Selected Athletes: A New Tool for the Prevention of Sudden Cardiac Death? 92
An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test 91
Preliminary study on the role of human defensins, interleukins and PCSK9 in early and late preeclampsia 91
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review 90
Multidisciplinary in-depth investigation in a young athlete suffering from syncope caused by myocardial bridge 89
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues 88
Characterization of Hypertrophic Cardiomyopathy Caused by Mutations in Four and a Half Lim Domains 1 Gene 87
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience 87
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. 85
Mutazioni a differente esito nella metilmalonico acidemia di tipo mut0 ripropongono il problema del timing nello screening metabolico allargato 85
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. 84
Cardiac ion channel genes analysis in LQTS families of southern Italy revealed eight mutations, including three novel ones 84
The hidden fragility in the heart of the athletes: A review of genetic biomarkers 84
A common polymorphism in SCN5A gene is associated with dilated cardiomyopathy 83
Impact of molecular diagnostics in an asymptomatic amateur athlete found to be affected by hypertrophic cardiomyopathy 83
Cardiomyopathies & Heart failure 2008. When and who: genetic testing” 82
Rapid screening by Surveyor Nuclease-based mutation detection for BRCA1 and BRCA2 genes 82
Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors 82
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach 81
Prenatal diagnosis of inherited diseases: 20 years? experience of an Italian Regional Reference Centre 80
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
Totale 13.645
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Categoria #
all - tutte 48.587
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 48.587
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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
2025/20265.847 927 730 974 1.029 1.565 373 249 0 0 0 0 0
Totale 17.088