IRIS
Novelli, Antonio
 Distribuzione geografica
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Continente #
AS - Asia 1.563
SA - Sud America 909
NA - Nord America 450
EU - Europa 331
AF - Africa 63
Totale 3.316
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Nazione #
SG - Singapore 990
BR - Brasile 822
US - Stati Uniti d'America 343
IT - Italia 140
HK - Hong Kong 134
CN - Cina 94
VN - Vietnam 80
MX - Messico 74
BD - Bangladesh 64
IN - India 50
GB - Regno Unito 44
DE - Germania 33
TR - Turchia 29
AR - Argentina 28
IQ - Iraq 26
NL - Olanda 22
FR - Francia 20
ZA - Sudafrica 19
UA - Ucraina 18
RU - Federazione Russa 17
ID - Indonesia 15
EC - Ecuador 14
SA - Arabia Saudita 14
PK - Pakistan 13
CA - Canada 12
MA - Marocco 12
VE - Venezuela 12
CO - Colombia 9
UZ - Uzbekistan 8
CL - Cile 7
JO - Giordania 7
KE - Kenya 7
NP - Nepal 7
PY - Paraguay 7
EG - Egitto 6
JM - Giamaica 6
DZ - Algeria 5
ES - Italia 5
JP - Giappone 5
PL - Polonia 5
TN - Tunisia 5
UY - Uruguay 5
HN - Honduras 4
IL - Israele 4
LB - Libano 4
AE - Emirati Arabi Uniti 3
AL - Albania 3
AZ - Azerbaigian 3
BO - Bolivia 3
CZ - Repubblica Ceca 3
IE - Irlanda 3
PT - Portogallo 3
SE - Svezia 3
SI - Slovenia 3
SN - Senegal 3
TT - Trinidad e Tobago 3
ET - Etiopia 2
KG - Kirghizistan 2
LT - Lituania 2
OM - Oman 2
PE - Perù 2
TW - Taiwan 2
AM - Armenia 1
BB - Barbados 1
BE - Belgio 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CR - Costa Rica 1
CU - Cuba 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
GA - Gabon 1
GE - Georgia 1
GM - Gambi 1
GP - Guadalupe 1
HU - Ungheria 1
IS - Islanda 1
KW - Kuwait 1
NG - Nigeria 1
NI - Nicaragua 1
PA - Panama 1
PH - Filippine 1
PS - Palestinian Territory 1
SK - Slovacchia (Repubblica Slovacca) 1
SO - Somalia 1
VC - Saint Vincent e Grenadine 1
YE - Yemen 1
Totale 3.316
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Città #
Singapore 528
Hong Kong 123
Beijing 80
Rome 67
São Paulo 62
Mexico City 61
Ho Chi Minh City 35
Rio de Janeiro 29
Dhaka 22
Belo Horizonte 20
Santa Clara 18
Hanoi 17
Brasília 14
Campinas 14
Porto Alegre 14
Istanbul 13
Curitiba 12
Ashburn 11
Bologna 10
Atlanta 9
New York 9
Brooklyn 8
Chicago 8
Goiânia 8
Amman 7
Baghdad 7
Osasco 7
Quito 7
Campo Grande 6
Kingston 6
Nairobi 6
Salvador 6
Santiago 6
Boydton 5
Chennai 5
Contagem 5
Erbil 5
Fortaleza 5
Frankfurt am Main 5
Houston 5
Jeddah 5
Jena 5
Juiz de Fora 5
Montevideo 5
New Delhi 5
Quận Bình Thạnh 5
Riyadh 5
São Bernardo do Campo 5
Tashkent 5
Aracaju 4
Asunción 4
Baltimore 4
Bauru 4
Bexley 4
Cairo 4
Cape Town 4
Casablanca 4
Caxias do Sul 4
Guarulhos 4
Jundiaí 4
Los Angeles 4
Magé 4
Maracaibo 4
Mumbai 4
Philadelphia 4
Phoenix 4
Ribeirão Preto 4
Ribeirão das Neves 4
Santo André 4
Uberlândia 4
Varginha 4
Volta Redonda 4
Xi'an 4
Agadir 3
Americana 3
Anápolis 3
Barbacena 3
Belford Roxo 3
Belém 3
Campina Grande 3
Caracas 3
Caçapava 3
Chino 3
Cleveland 3
Colatina 3
Colombo 3
Cotia 3
Criciúma 3
Dakar 3
Dammam 3
Dublin 3
Duhok 3
El Progreso 3
Florianópolis 3
Guarujá 3
Haiphong 3
Hyderabad 3
Hải Dương 3
Ipatinga 3
Itajubá 3
Totale 1.507
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Nome #
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene 137
Evaluation of relative radiometric correction techniques on Landsat 8 OLI sensor data 56
Diagnostic accuracy of cell-free fetal DNA in maternal blood in detecting chromosomal anomalies in twin pregnancy: systematic review and meta-analysis 37
Optical Genome Mapping: where molecular techniques give up 23
Autoantibodies against type I IFNs in patients with critical influenza pneumonia 22
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies 21
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability 19
A lymphotactin-producing monoclonal T-cell lymphoproliferative disorder with extreme lymphocytopenia and progressive leukoencephalopathy [11] 18
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 18
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia 17
15q11.2 microdeletion and hypoplastic left heart syndrome 15
1p36 deletion syndrome and the aorta: A report of three new patients and a literature review 15
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype 15
The use of geomorphological descriptors and landsat-8 spectral indices data for flood areas evaluation: A case study of Lato river basin 15
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization 15
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 15
17p13.1 Microdeletion: Genetic and Clinical Findings in a New Patient With Epilepsy and Comparison With Literature 15
335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features 14
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children 14
Arrhythmogenic cardiomyopathy in children according to "Padua criteria": Single pediatric center experience 14
FOXI3 pathogenic variants cause one form of craniofacial microsomia 14
Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition? 14
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision 14
Identification of a robust DNA methylation signature for Fanconi anemia 13
A bottom-up spatially explicit methodology to estimate the space heating demand of the building stock at regional scale 13
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism 13
NOVEL MICROEMULSION FORMULATION REDUCES ACID-HYDROLYSIS OF RADIOPROTECTOR WR-2721 13
High-resolution SNP arrays in mental retardation diagnostics: How much do we gain 13
A new national survey of centers for cognitive disorders and dementias in Italy 13
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings 13
COVID‐19 and genetic variants of protein involved in the SARS‐CoV‐2 entry into the host cells 13
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies 13
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum 13
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) 12
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 12
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 12
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports (Frontiers in Psychiatry, (2024), 14, (1327802), 10.3389/fpsyt.2023.1327802) 12
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort 12
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability 12
A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE? 12
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features 12
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers 12
The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect 12
Prenatal CFAP53-related laterality defect: case report and review of the literature 12
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype 12
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 11
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy 11
Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1 11
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement 11
7q11.23 microduplication syndrome: Clinical and neurobehavioral profiling 11
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 11
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 11
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2 11
Ebstein Anomaly: Genetic Heterogeneity and Association With Microdeletions 1p36 and 8p23.1 11
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling 11
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 11
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D 11
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)) 11
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 11
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects 11
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region 11
The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review 11
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies 11
Androgen insensitivity syndrome (or Morris syndrome) and other associated pathologies 11
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 11
A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants 11
Human genetic and immunological determinants of critical COVID-19 pneumonia 11
Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype 11
ZIC1 and ZIC4 deletion at 3q24 is not always associated with Dandy-Walker malformation (DWM) 11
Object-based greenhouse mapping using very high resolution satellite data and Landsat 8 time series 11
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations 11
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2 11
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis 11
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres 11
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood 11
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 10
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects 10
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder 10
Phenocopy of Wolf-Hirschhorn Syndrome in a Patient With Duplication 12q13.3q14.1 10
Expression analysis of miRNA hsa-let7b-5p in naso-oropharyngeal swabs of COVID-19 patients supports its role in regulating ACE2 and DPP4 receptors 10
TBX2 Gene Duplication Associated With Complex Heart Defect and Skeletal Malformations 10
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy 10
2q31.2q32.3 Deletion Syndrome: Report of an Adult Patient 10
Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality 10
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis 10
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study 10
When embryology meets genetics: the definition of developmentally incompetent preimplantation embryos (DIPE)-the consensus of two Italian scientific societies 10
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease 10
From molecular identification to PGT-M of a novel primary ciliopathy due to biallelic mutations in the TOGARAM1 gene 10
A data fusion Kalman filter algorithm to estimate leaf area index evolution by using Modis LAI and PROBA-V top of canopy synthesis data 10
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy 10
Exon-trapping assay improves clinical interpretation of COL11A1 and COL11A2 intronic variants in stickler syndrome type 2 and otospondylomegaepiphyseal dysplasia 10
Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth 10
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy 10
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 10
16p subtelomeric duplication: a clinically recognizable syndrome 10
Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involvingNRXN1: Report of five new cases 10
16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer 10
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap 10
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome 10
Totale 1.411
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Categoria #
all - tutte 19.556
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 19.556
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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
2025/2026793 467 58 268 0 0 0 0 0 0 0 0 0
Totale 3.807