IRIS
Novelli, Antonio
 Distribuzione geografica
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Continente #
AS - Asia 4.693
NA - Nord America 3.452
SA - Sud America 1.922
EU - Europa 690
AF - Africa 282
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
Totale 11.044
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Nazione #
US - Stati Uniti d'America 3.176
SG - Singapore 1.886
BR - Brasile 1.435
CN - Cina 824
HK - Hong Kong 631
VN - Vietnam 321
IT - Italia 263
IN - India 191
MX - Messico 179
AR - Argentina 156
BD - Bangladesh 150
TR - Turchia 93
IQ - Iraq 91
CO - Colombia 78
EC - Ecuador 76
ZA - Sudafrica 76
ID - Indonesia 75
PK - Pakistan 67
RU - Federazione Russa 61
VE - Venezuela 60
GB - Regno Unito 55
DE - Germania 52
SA - Arabia Saudita 52
FR - Francia 47
MA - Marocco 47
PH - Filippine 47
NL - Olanda 43
TN - Tunisia 39
UA - Ucraina 38
MY - Malesia 37
CL - Cile 36
CA - Canada 30
ES - Italia 29
PY - Paraguay 27
UZ - Uzbekistan 27
AE - Emirati Arabi Uniti 20
EG - Egitto 20
JO - Giordania 19
NP - Nepal 19
PE - Perù 19
AZ - Azerbaigian 18
KE - Kenya 18
UY - Uruguay 16
BO - Bolivia 15
ET - Etiopia 15
JM - Giamaica 15
DZ - Algeria 14
IL - Israele 12
CR - Costa Rica 11
HN - Honduras 11
KG - Kirghizistan 11
LB - Libano 11
OM - Oman 11
JP - Giappone 10
RS - Serbia 10
KZ - Kazakistan 9
PL - Polonia 9
PS - Palestinian Territory 9
AL - Albania 8
DO - Repubblica Dominicana 7
SN - Senegal 7
TH - Thailandia 7
BY - Bielorussia 6
IE - Irlanda 6
LY - Libia 6
NG - Nigeria 6
PA - Panama 6
PT - Portogallo 6
SI - Slovenia 6
BE - Belgio 5
CZ - Repubblica Ceca 5
KW - Kuwait 5
TT - Trinidad e Tobago 5
TW - Taiwan 5
BH - Bahrain 4
GE - Georgia 4
HU - Ungheria 4
KR - Corea 4
MU - Mauritius 4
QA - Qatar 4
SE - Svezia 4
SY - Repubblica araba siriana 4
DK - Danimarca 3
GA - Gabon 3
GR - Grecia 3
KH - Cambogia 3
LA - Repubblica Popolare Democratica del Laos 3
LT - Lituania 3
NI - Nicaragua 3
RE - Reunion 3
XK - ???statistics.table.value.countryCode.XK??? 3
ZW - Zimbabwe 3
AM - Armenia 2
AT - Austria 2
BA - Bosnia-Erzegovina 2
BB - Barbados 2
BG - Bulgaria 2
BW - Botswana 2
CG - Congo 2
CH - Svizzera 2
Totale 10.991
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Città #
San Jose 1.998
Singapore 937
Ashburn 691
Hong Kong 619
Beijing 389
Mexico City 142
Ho Chi Minh City 126
São Paulo 110
Rome 74
Hanoi 70
Santa Clara 47
Dhaka 42
Rio de Janeiro 41
Baghdad 37
Belo Horizonte 33
Istanbul 31
Brasília 27
Orem 27
Quito 27
Curitiba 26
Porto Alegre 25
Medellín 24
Johannesburg 23
Tashkent 23
Riyadh 22
Campinas 21
Santiago 20
Caracas 19
Salvador 19
Amman 18
Casablanca 16
Guayaquil 16
Nairobi 16
Cape Town 15
Chennai 15
Haiphong 15
Jakarta 15
Jeddah 15
Kuala Lumpur 15
Montevideo 15
Baku 14
Buenos Aires 14
Goiânia 14
New York 14
Tunis 14
Karachi 13
Lahore 13
Addis Ababa 12
Bologna 12
Los Angeles 12
Asunción 11
Cairo 11
Delhi 11
Fortaleza 11
Kingston 11
Osasco 11
Petaling Jaya 11
Sorocaba 11
São Bernardo do Campo 11
Campo Grande 10
Erbil 10
Lima 10
Mumbai 10
Muscat 10
New Delhi 10
Atlanta 9
Bishkek 9
Brooklyn 9
Da Nang 9
Dallas 9
Guarulhos 9
Milan 9
Pretoria 9
Verona 9
Berlin 8
Biên Hòa 8
Bogotá 8
Chicago 8
Dammam 8
Juiz de Fora 8
Mar del Plata 8
Montreal 8
San José 8
Amsterdam 7
Belgrade 7
Cali 7
Concepción 7
Cotia 7
Dakar 7
Panama City 7
Ribeirão Preto 7
Santo André 7
Sumaré 7
Volta Redonda 7
Ankara 6
Bauru 6
Bắc Ninh 6
Can Tho 6
Cochabamba 6
Dublin 6
Totale 6.418
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Nome #
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene 151
Diagnostic accuracy of cell-free fetal DNA in maternal blood in detecting chromosomal anomalies in twin pregnancy: systematic review and meta-analysis 78
Evaluation of relative radiometric correction techniques on Landsat 8 OLI sensor data 69
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports 58
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability 48
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review 46
Optical Genome Mapping: where molecular techniques give up 43
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort 40
COVID-19: S-Peptide RBD 484–508 Induces IFN-γ T-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2-Positive Patients 39
A lymphotactin-producing monoclonal T-cell lymphoproliferative disorder with extreme lymphocytopenia and progressive leukoencephalopathy [11] 37
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization 37
A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined 36
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies 36
Autoantibodies against type I IFNs in patients with critical influenza pneumonia 35
Identification of a robust DNA methylation signature for Fanconi anemia 35
2q31.2q32.3 Deletion Syndrome: Report of an Adult Patient 35
7q11.23 microduplication syndrome: Clinical and neurobehavioral profiling 35
The use of geomorphological descriptors and landsat-8 spectral indices data for flood areas evaluation: A case study of Lato river basin 35
17p13.1 Microdeletion: Genetic and Clinical Findings in a New Patient With Epilepsy and Comparison With Literature 35
9q34.3 microduplications lead to Neurodevelopmental Disorders through EHMT1 overexpression 34
Object-based greenhouse mapping using very high resolution satellite data and Landsat 8 time series 34
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 33
Autoantibodies against type I IFNs in patients with life-threatening COVID-19 33
Androgen insensitivity syndrome (or Morris syndrome) and other associated pathologies 33
A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE? 33
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype 33
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision 33
Expression analysis of miRNA hsa-let7b-5p in naso-oropharyngeal swabs of COVID-19 patients supports its role in regulating ACE2 and DPP4 receptors 32
A bottom-up spatially explicit methodology to estimate the space heating demand of the building stock at regional scale 32
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers 32
335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features 32
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 32
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review 32
FOXI3 pathogenic variants cause one form of craniofacial microsomia 32
Combining ad hoc spectral indices based on LANDSAT-8 OLI/TIRS sensor data for the detection of plastic cover vineyard 31
15q11.2 microdeletion and hypoplastic left heart syndrome 31
From molecular identification to PGT-M of a novel primary ciliopathy due to biallelic mutations in the TOGARAM1 gene 31
A data fusion Kalman filter algorithm to estimate leaf area index evolution by using Modis LAI and PROBA-V top of canopy synthesis data 31
A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis 31
Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches 31
The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect 31
Prenatal CFAP53-related laterality defect: case report and review of the literature 31
Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation 31
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres 31
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder 30
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia 30
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study 30
1p36 deletion syndrome and the aorta: A report of three new patients and a literature review 30
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype 30
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions 30
WWP1germline variants are associated with normocephalic autism spectrum disorder 30
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability 30
16p subtelomeric duplication: a clinically recognizable syndrome 30
A new national survey of centers for cognitive disorders and dementias in Italy 30
COVID‐19 and genetic variants of protein involved in the SARS‐CoV‐2 entry into the host cells 30
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis 30
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy 29
A Spatially-Explicit Economic and Financial Assessment of Closed-Loop Ground-Source Geothermal Heat Pumps: A Case Study for the Residential Buildings of Valle d'Aosta Region 29
Cantù syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants 29
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 29
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D 29
When embryology meets genetics: the definition of developmentally incompetent preimplantation embryos (DIPE)-the consensus of two Italian scientific societies 29
Exploring the Clinical Spectrum of HUWE1-Related Neurodevelopmental Disorder: Five New Patients and Literature Review 29
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy 29
The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review 29
Whole exome sequencing in fetuses with isolated increased nuchal translucency: a systematic review and meta-analysis 29
High-resolution SNP arrays in mental retardation diagnostics: How much do we gain 29
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies 29
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2 29
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome Medicine, (2023), 15, 1, (22), 10.1186/s13073-023-01173-8) 28
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 28
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 28
A case report on filamin A gene mutation and progressive pulmonary disease in an infant A lung tissued derived mesenchymal stem cell study 28
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports (Frontiers in Psychiatry, (2024), 14, (1327802), 10.3389/fpsyt.2023.1327802) 28
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome 28
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy 28
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease 28
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis 28
Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality 28
Ebstein Anomaly: Genetic Heterogeneity and Association With Microdeletions 1p36 and 8p23.1 28
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling 28
The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology (SIGO) 28
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region 28
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism 28
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies 28
Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations 28
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy 28
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism 28
A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants 28
Isolated CDH1 germline small deletion in a family with early onset breast cancer detected by Array-CGH 28
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings 28
Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype 28
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy 28
A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype 28
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis 28
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency 28
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD 27
Whole exome sequencing is the minimal technological approach in probands born to consanguineous couples 27
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations 27
The future of prenatal diagnosis: Karyotype, microarray or both? Technical and ethical considerations 27
Totale 3.329
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Categoria #
all - tutte 44.426
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 44.426
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2024/20253.014 0 0 0 8 65 75 144 559 163 242 880 878
2025/20268.522 467 58 629 702 1.013 671 1.106 561 2.396 919 0 0
Totale 11.536