IRIS
Novelli, Antonio
 Distribuzione geografica
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Continente #
AS - Asia 1.460
SA - Sud America 757
NA - Nord America 428
EU - Europa 290
AF - Africa 49
Totale 2.984
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Nazione #
SG - Singapore 972
BR - Brasile 695
US - Stati Uniti d'America 327
HK - Hong Kong 130
IT - Italia 123
CN - Cina 92
MX - Messico 73
BD - Bangladesh 63
IN - India 50
GB - Regno Unito 42
DE - Germania 32
TR - Turchia 29
VN - Vietnam 26
IQ - Iraq 25
AR - Argentina 20
NL - Olanda 20
FR - Francia 19
ZA - Sudafrica 16
UA - Ucraina 14
SA - Arabia Saudita 13
CA - Canada 12
MA - Marocco 11
PK - Pakistan 11
RU - Federazione Russa 11
VE - Venezuela 11
EC - Ecuador 9
CO - Colombia 7
ID - Indonesia 6
JM - Giamaica 6
JO - Giordania 6
KE - Kenya 6
NP - Nepal 6
UZ - Uzbekistan 6
ES - Italia 5
JP - Giappone 5
PL - Polonia 5
CL - Cile 4
EG - Egitto 4
HN - Honduras 4
IL - Israele 4
LB - Libano 4
TN - Tunisia 4
UY - Uruguay 4
AE - Emirati Arabi Uniti 3
BO - Bolivia 3
CZ - Repubblica Ceca 3
DZ - Algeria 3
IE - Irlanda 3
AL - Albania 2
ET - Etiopia 2
KG - Kirghizistan 2
LT - Lituania 2
OM - Oman 2
PE - Perù 2
PT - Portogallo 2
PY - Paraguay 2
SE - Svezia 2
SI - Slovenia 2
SN - Senegal 2
TT - Trinidad e Tobago 2
TW - Taiwan 2
AZ - Azerbaigian 1
BB - Barbados 1
BE - Belgio 1
BG - Bulgaria 1
BY - Bielorussia 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
GE - Georgia 1
KW - Kuwait 1
NG - Nigeria 1
NI - Nicaragua 1
Totale 2.984
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Città #
Singapore 528
Hong Kong 120
Beijing 78
Rome 63
Mexico City 60
São Paulo 55
Dhaka 22
Rio de Janeiro 22
Belo Horizonte 18
Brasília 13
Istanbul 13
Santa Clara 13
Campinas 12
Curitiba 11
Ashburn 10
Bologna 10
Atlanta 9
Porto Alegre 9
Brooklyn 8
Chicago 8
Ho Chi Minh City 8
New York 8
Goiânia 7
Hanoi 7
Amman 6
Baghdad 6
Campo Grande 6
Kingston 6
Salvador 6
Boydton 5
Chennai 5
Erbil 5
Houston 5
Jeddah 5
Jena 5
Nairobi 5
New Delhi 5
Osasco 5
Quito 5
Baltimore 4
Bauru 4
Casablanca 4
Caxias do Sul 4
Contagem 4
Fortaleza 4
Frankfurt am Main 4
Guarulhos 4
Juiz de Fora 4
Montevideo 4
Mumbai 4
Philadelphia 4
Phoenix 4
Ribeirão Preto 4
Ribeirão das Neves 4
Riyadh 4
Santiago 4
São Bernardo do Campo 4
Varginha 4
Xi'an 4
Anápolis 3
Aracaju 3
Belford Roxo 3
Bexley 3
Campina Grande 3
Caracas 3
Chino 3
Cleveland 3
Colatina 3
Colombo 3
Cotia 3
Dammam 3
Dublin 3
Duhok 3
El Progreso 3
Florianópolis 3
Guarujá 3
Hyderabad 3
Jacksonville 3
Jequié 3
Johannesburg 3
Karachi 3
Kolkata 3
Krefeld 3
Limeira 3
Los Angeles 3
Maracaibo 3
Miami 3
Milan 3
Niterói 3
Nova Iguaçu 3
Praia Grande 3
Queens 3
Quận Bình Thạnh 3
Samarkand 3
Santo André 3
Sete Lagoas 3
São Caetano do Sul 3
São José do Rio Preto 3
São José dos Campos 3
Tashkent 3
Totale 1.395
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Nome #
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene 136
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 36
Optical Genome Mapping: where molecular techniques give up 22
Autoantibodies against type I IFNs in patients with critical influenza pneumonia 21
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
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia 17
A lymphotactin-producing monoclonal T-cell lymphoproliferative disorder with extreme lymphocytopenia and progressive leukoencephalopathy [11] 16
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 16
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype 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
The use of geomorphological descriptors and landsat-8 spectral indices data for flood areas evaluation: A case study of Lato river basin 14
Identification of a robust DNA methylation signature for Fanconi anemia 13
15q11.2 microdeletion and hypoplastic left heart syndrome 13
1p36 deletion syndrome and the aorta: A report of three new patients and a literature review 13
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization 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
17p13.1 Microdeletion: Genetic and Clinical Findings in a New Patient With Epilepsy and Comparison With Literature 13
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children 13
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings 13
FOXI3 pathogenic variants cause one form of craniofacial microsomia 13
Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition? 13
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 12
A bottom-up spatially explicit methodology to estimate the space heating demand of the building stock at regional scale 12
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers 12
335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features 12
COVID‐19 and genetic variants of protein involved in the SARS‐CoV‐2 entry into the host cells 12
Arrhythmogenic cardiomyopathy in children according to "Padua criteria": Single pediatric center experience 12
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies 12
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision 12
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy 11
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 11
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement 11
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 11
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 11
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects 11
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability 11
Androgen insensitivity syndrome (or Morris syndrome) and other associated pathologies 11
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features 11
High-resolution SNP arrays in mental retardation diagnostics: How much do we gain 11
A new national survey of centers for cognitive disorders and dementias in Italy 11
Prenatal CFAP53-related laterality defect: case report and review of the literature 11
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum 11
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis 11
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) 10
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports (Frontiers in Psychiatry, (2024), 14, (1327802), 10.3389/fpsyt.2023.1327802) 10
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder 10
TBX2 Gene Duplication Associated With Complex Heart Defect and Skeletal Malformations 10
Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1 10
7q11.23 microduplication syndrome: Clinical and neurobehavioral profiling 10
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 10
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2 10
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)) 10
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 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
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort 10
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region 10
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies 10
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 10
A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE? 10
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 10
Human genetic and immunological determinants of critical COVID-19 pneumonia 10
ZIC1 and ZIC4 deletion at 3q24 is not always associated with Dandy-Walker malformation (DWM) 10
Object-based greenhouse mapping using very high resolution satellite data and Landsat 8 time series 10
The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect 10
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype 10
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign 10
A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype 10
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood 10
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients 10
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 9
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects 9
Developmental incompetent preimplantation embryo: a two Societies consensus 9
Intractable diarrhea in infancy and molecular analysis: We are beyond the tip of the iceberg 9
Phenocopy of Wolf-Hirschhorn Syndrome in a Patient With Duplication 12q13.3q14.1 9
Expression analysis of miRNA hsa-let7b-5p in naso-oropharyngeal swabs of COVID-19 patients supports its role in regulating ACE2 and DPP4 receptors 9
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 9
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy 9
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis 9
Gene Set Enrichment Analysis of Interaction Networks Weighted by Node Centrality 9
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis 9
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis 9
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling 9
Studying severe long COVID to understand post-infectious disorders beyond COVID-19 9
Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics 9
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study 9
When embryology meets genetics: the definition of developmentally incompetent preimplantation embryos (DIPE)-the consensus of two Italian scientific societies 9
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype 9
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy 9
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome 9
The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review 9
Severe herpes virus 6 interstitial pneumonia in an infant with three variants in genes predisposing to lung disease 9
Exon-trapping assay improves clinical interpretation of COL11A1 and COL11A2 intronic variants in stickler syndrome type 2 and otospondylomegaepiphyseal dysplasia 9
Performance evaluation of object based greenhouse detection from Sentinel-2 MSI and Landsat 8 OLI data: A case study from Almería (Spain) 9
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH plus ) using DECIPHER data 9
Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth 9
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy 9
Totale 1.310
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Categoria #
all - tutte 13.369
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 13.369
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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
2025/2026461 461 0 0 0 0 0 0 0 0 0 0 0
Totale 3.475