IRIS
Novelli, Antonio
 Distribuzione geografica
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Continente #
AS - Asia 2.139
SA - Sud America 1.325
NA - Nord America 553
EU - Europa 409
AF - Africa 102
Continente sconosciuto - Info sul continente non disponibili 1
Totale 4.529
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Nazione #
BR - Brasile 1.147
SG - Singapore 1.030
US - Stati Uniti d'America 425
CN - Cina 375
VN - Vietnam 264
IT - Italia 170
HK - Hong Kong 146
MX - Messico 80
BD - Bangladesh 70
AR - Argentina 62
IN - India 52
GB - Regno Unito 44
DE - Germania 37
ID - Indonesia 37
EC - Ecuador 36
ZA - Sudafrica 31
IQ - Iraq 30
TR - Turchia 29
NL - Olanda 28
RU - Federazione Russa 28
UA - Ucraina 24
FR - Francia 21
PY - Paraguay 18
MA - Marocco 16
PK - Pakistan 16
VE - Venezuela 16
CO - Colombia 15
CA - Canada 14
SA - Arabia Saudita 14
CL - Cile 12
EG - Egitto 10
TN - Tunisia 10
UY - Uruguay 10
NP - Nepal 9
UZ - Uzbekistan 9
HN - Honduras 8
KE - Kenya 8
ES - Italia 7
JM - Giamaica 7
JO - Giordania 7
PL - Polonia 7
AZ - Azerbaigian 6
DZ - Algeria 6
LB - Libano 6
DO - Repubblica Dominicana 5
JP - Giappone 5
PE - Perù 5
AE - Emirati Arabi Uniti 4
CR - Costa Rica 4
CZ - Repubblica Ceca 4
IE - Irlanda 4
IL - Israele 4
PT - Portogallo 4
SI - Slovenia 4
SN - Senegal 4
AL - Albania 3
BO - Bolivia 3
GA - Gabon 3
SE - Svezia 3
TT - Trinidad e Tobago 3
CU - Cuba 2
ET - Etiopia 2
GR - Grecia 2
HR - Croazia 2
HU - Ungheria 2
KG - Kirghizistan 2
KR - Corea 2
KZ - Kazakistan 2
LT - Lituania 2
MY - Malesia 2
OM - Oman 2
SK - Slovacchia (Repubblica Slovacca) 2
TW - Taiwan 2
AM - Armenia 1
AO - Angola 1
BB - Barbados 1
BE - Belgio 1
BG - Bulgaria 1
BJ - Benin 1
BN - Brunei Darussalam 1
BW - Botswana 1
BY - Bielorussia 1
CD - Congo 1
DJ - Gibuti 1
DK - Danimarca 1
FI - Finlandia 1
GE - Georgia 1
GF - Guiana Francese 1
GM - Gambi 1
GP - Guadalupe 1
IM - Isola di Man 1
IR - Iran 1
IS - Islanda 1
KH - Cambogia 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
LY - Libia 1
ME - Montenegro 1
ML - Mali 1
Totale 4.512
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Città #
Singapore 528
Beijing 206
Hong Kong 134
Ho Chi Minh City 107
São Paulo 93
Ashburn 85
Rome 71
Mexico City 61
Hanoi 59
Rio de Janeiro 33
Belo Horizonte 26
Dhaka 25
Brasília 22
Curitiba 20
Porto Alegre 19
Santa Clara 18
Campinas 17
Haiphong 14
Quito 14
Istanbul 13
Salvador 13
Bologna 10
Fortaleza 10
Goiânia 10
Osasco 10
Asunción 9
Atlanta 9
Baghdad 9
Da Nang 9
Guarulhos 9
Montevideo 9
New York 9
Brooklyn 8
Chicago 8
Dallas 8
Santiago 8
Amman 7
Cairo 7
Campo Grande 7
Cotia 7
Guayaquil 7
Johannesburg 7
Kingston 7
Nairobi 7
Volta Redonda 7
Biên Hòa 6
Caracas 6
Juiz de Fora 6
Magé 6
Ribeirão Preto 6
Santo André 6
Sorocaba 6
São Bernardo do Campo 6
Tashkent 6
Verona 6
Baku 5
Bauru 5
Boydton 5
Buenos Aires 5
Can Tho 5
Cape Town 5
Casablanca 5
Caxias do Sul 5
Caçapava 5
Chennai 5
Contagem 5
Erbil 5
Frankfurt am Main 5
Houston 5
Hải Dương 5
Itu 5
Jeddah 5
Jena 5
Jundiaí 5
Londrina 5
Mauá 5
New Delhi 5
Nova Iguaçu 5
Quận Bình Thạnh 5
Recife 5
Riyadh 5
Sumaré 5
Uberlândia 5
Aracaju 4
Baltimore 4
Barbacena 4
Belford Roxo 4
Belém 4
Berlin 4
Bexley 4
Bắc Ninh 4
Campina Grande 4
Colatina 4
Criciúma 4
Dakar 4
Divinópolis 4
Dublin 4
Florianópolis 4
Ha Long 4
Hortolândia 4
Totale 2.044
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Nome #
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene 140
Evaluation of relative radiometric correction techniques on Landsat 8 OLI sensor data 57
Diagnostic accuracy of cell-free fetal DNA in maternal blood in detecting chromosomal anomalies in twin pregnancy: systematic review and meta-analysis 41
Optical Genome Mapping: where molecular techniques give up 25
Autoantibodies against type I IFNs in patients with critical influenza pneumonia 24
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies 24
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability 23
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort 21
A lymphotactin-producing monoclonal T-cell lymphoproliferative disorder with extreme lymphocytopenia and progressive leukoencephalopathy [11] 21
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 21
17p13.1 Microdeletion: Genetic and Clinical Findings in a New Patient With Epilepsy and Comparison With Literature 21
15q11.2 microdeletion and hypoplastic left heart syndrome 20
The use of geomorphological descriptors and landsat-8 spectral indices data for flood areas evaluation: A case study of Lato river basin 19
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization 19
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 19
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) 18
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia 18
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children 18
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype 18
Ebstein Anomaly: Genetic Heterogeneity and Association With Microdeletions 1p36 and 8p23.1 17
1p36 deletion syndrome and the aorta: A report of three new patients and a literature review 17
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype 17
A new national survey of centers for cognitive disorders and dementias in Italy 17
COVID‐19 and genetic variants of protein involved in the SARS‐CoV‐2 entry into the host cells 17
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision 17
A bottom-up spatially explicit methodology to estimate the space heating demand of the building stock at regional scale 16
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism 16
Androgen insensitivity syndrome (or Morris syndrome) and other associated pathologies 16
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers 16
335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features 16
High-resolution SNP arrays in mental retardation diagnostics: How much do we gain 16
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings 16
Object-based greenhouse mapping using very high resolution satellite data and Landsat 8 time series 16
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 16
FOXI3 pathogenic variants cause one form of craniofacial microsomia 16
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum 16
Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition? 16
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 15
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 15
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 15
Identification of a robust DNA methylation signature for Fanconi anemia 15
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy 15
7q11.23 microduplication syndrome: Clinical and neurobehavioral profiling 15
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 15
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 15
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling 15
A data fusion Kalman filter algorithm to estimate leaf area index evolution by using Modis LAI and PROBA-V top of canopy synthesis data 15
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability 15
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies 15
A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE? 15
NOVEL MICROEMULSION FORMULATION REDUCES ACID-HYDROLYSIS OF RADIOPROTECTOR WR-2721 15
The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect 15
Prenatal CFAP53-related laterality defect: case report and review of the literature 15
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies 15
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres 15
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy 14
Expression analysis of miRNA hsa-let7b-5p in naso-oropharyngeal swabs of COVID-19 patients supports its role in regulating ACE2 and DPP4 receptors 14
Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality 14
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis 14
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2 14
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 14
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D 14
Erratum: De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (Genetics in Medicine (2023) 25(10), (S1098360023009401), (10.1016/j.gim.2023.100927)) 14
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease 14
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1 14
From molecular identification to PGT-M of a novel primary ciliopathy due to biallelic mutations in the TOGARAM1 gene 14
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region 14
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy 14
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 14
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features 14
A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants 14
16p subtelomeric duplication: a clinically recognizable syndrome 14
Human genetic and immunological determinants of critical COVID-19 pneumonia 14
Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype 14
16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer 14
Arrhythmogenic cardiomyopathy in children according to "Padua criteria": Single pediatric center experience 14
A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype 14
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis 14
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood 14
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 13
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports (Frontiers in Psychiatry, (2024), 14, (1327802), 10.3389/fpsyt.2023.1327802) 13
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder 13
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome 13
Phenocopy of Wolf-Hirschhorn Syndrome in a Patient With Duplication 12q13.3q14.1 13
TBX2 Gene Duplication Associated With Complex Heart Defect and Skeletal Malformations 13
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome 13
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement 13
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 13
2q31.2q32.3 Deletion Syndrome: Report of an Adult Patient 13
The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review 13
Exon-trapping assay improves clinical interpretation of COL11A1 and COL11A2 intronic variants in stickler syndrome type 2 and otospondylomegaepiphyseal dysplasia 13
CLINICAL AND THERAPEUTIC FEATURES OF 270 PATIENTS WITH MACROPHAGE ACTIVATION SYNDROME ENROLLED IN A MULTINATIONAL SURVEY 13
Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involvingNRXN1: Report of five new cases 13
Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches 13
The clinical utility and indications of chromosomal microarray analysis in prenatal diagnosis 13
KBG syndrome: Common and uncommon clinical features based on 31 new patients 13
X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients 13
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency 13
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports 12
A case report on filamin A gene mutation and progressive pulmonary disease in an infant A lung tissued derived mesenchymal stem cell study 12
Totale 1.738
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Categoria #
all - tutte 33.276
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 33.276
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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
2025/20262.006 467 58 629 702 150 0 0 0 0 0 0 0
Totale 5.020