IRIS
Novelli, Antonio
 Distribuzione geografica
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Continente #
AS - Asia 457
EU - Europa 141
NA - Nord America 118
SA - Sud America 13
AF - Africa 2
Totale 731
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Nazione #
SG - Singapore 327
HK - Hong Kong 95
IT - Italia 85
US - Stati Uniti d'America 65
MX - Messico 52
DE - Germania 25
NL - Olanda 14
BR - Brasile 13
TR - Turchia 10
IN - India 8
ID - Indonesia 6
UA - Ucraina 6
CN - Cina 3
CZ - Repubblica Ceca 3
JP - Giappone 2
PL - Polonia 2
PT - Portogallo 2
SE - Svezia 2
TW - Taiwan 2
AE - Emirati Arabi Uniti 1
BD - Bangladesh 1
CA - Canada 1
EG - Egitto 1
FR - Francia 1
GB - Regno Unito 1
IQ - Iraq 1
KG - Kirghizistan 1
ZA - Sudafrica 1
Totale 731
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Città #
Singapore 167
Hong Kong 85
Rome 51
Mexico City 49
Santa Clara 13
Bologna 7
Ashburn 5
Istanbul 5
Jena 5
Chennai 3
Chino 3
Krefeld 3
Milan 3
Bitonto 2
Boydton 2
Brescia 2
Dąbrowa Górnicza 2
Gothenburg 2
Kayseri 2
Kütahya 2
Lisbon 2
New Delhi 2
New York 2
Prague 2
San Nicolás de los Garza 2
Weehawken 2
Angra dos Reis 1
Anápolis 1
Baghdad 1
Bari 1
Bishkek 1
Boston 1
Brasília 1
Cairo 1
Chapecó 1
Cianorte 1
Council Bluffs 1
Falkenstein 1
Hildesheim 1
Hyderabad 1
Itaberaba 1
Montreal 1
Nova Venécia 1
Paltan 1
Piatã 1
Rio de Janeiro 1
Santa Vitória do Palmar 1
São Francisco do Pará 1
Taichung 1
Tokyo 1
Três Lagoas 1
Wolfsburg 1
Totale 451
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Nome #
Diagnostic accuracy of cell-free fetal DNA in maternal blood in detecting chromosomal anomalies in twin pregnancy: systematic review and meta-analysis 26
Optical Genome Mapping: where molecular techniques give up 14
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability 8
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies 8
Autoantibodies against type I IFNs in patients with critical influenza pneumonia 7
A lymphotactin-producing monoclonal T-cell lymphoproliferative disorder with extreme lymphocytopenia and progressive leukoencephalopathy [11] 7
The use of geomorphological descriptors and landsat-8 spectral indices data for flood areas evaluation: A case study of Lato river basin 7
COVID‐19 and genetic variants of protein involved in the SARS‐CoV‐2 entry into the host cells 7
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum 7
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 6
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 6
Expression analysis of miRNA hsa-let7b-5p in naso-oropharyngeal swabs of COVID-19 patients supports its role in regulating ACE2 and DPP4 receptors 6
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia 6
HLA allele frequencies and susceptibility to COVID-19 in a group of 99 Italian patients 6
When embryology meets genetics: the definition of developmentally incompetent preimplantation embryos (DIPE)-the consensus of two Italian scientific societies 6
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype 6
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability 6
A new national survey of centers for cognitive disorders and dementias in Italy 6
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype 6
Combining ad hoc spectral indices based on LANDSAT-8 OLI/TIRS sensor data for the detection of plastic cover vineyard 5
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy 5
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 5
Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports (Frontiers in Psychiatry, (2024), 14, (1327802), 10.3389/fpsyt.2023.1327802) 5
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis 5
HLA-haploidentical TCR alpha beta(+)/CD19(+)-depleted stem cell transplantation in children and young adults with Fanconi anemia 5
1p36 deletion syndrome and the aorta: A report of three new patients and a literature review 5
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 5
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements 5
Pure trisomy 19p syndrome in an infant with an extra ring chromosome 5
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations 5
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 5
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis 5
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 5
High-resolution SNP arrays in mental retardation diagnostics: How much do we gain 5
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap 5
FOXI3 pathogenic variants cause one form of craniofacial microsomia 5
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients 5
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome 4
Autoantibodies against type I IFNs in patients with life-threatening COVID-19 4
Identification of a robust DNA methylation signature for Fanconi anemia 4
A bottom-up spatially explicit methodology to estimate the space heating demand of the building stock at regional scale 4
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 4
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile 4
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis 4
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis 4
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2 4
Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report 4
Studying severe long COVID to understand post-infectious disorders beyond COVID-19 4
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D 4
Design, construction and validation of targeted BAC array-based CGH test for detecting the most commons chromosomal abnormalities 4
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease 4
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation 4
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration 4
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region 4
A data fusion Kalman filter algorithm to estimate leaf area index evolution by using Modis LAI and PROBA-V top of canopy synthesis data 4
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism 4
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies 4
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene 4
Exon-trapping assay improves clinical interpretation of COL11A1 and COL11A2 intronic variants in stickler syndrome type 2 and otospondylomegaepiphyseal dysplasia 4
A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE? 4
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH plus ) using DECIPHER data 4
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features 4
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14 4
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review 4
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports 4
The splice c.1815G > A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome A case report and literature review 4
CLINICAL AND THERAPEUTIC FEATURES OF 270 PATIENTS WITH MACROPHAGE ACTIVATION SYNDROME ENROLLED IN A MULTINATIONAL SURVEY 4
Comparing the MLC and JavaNNS approaches in classifying multi-temporal LANDSAT satellite imagery over an ephemeral river area 4
Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involvingNRXN1: Report of five new cases 4
Evaluation of relative radiometric correction techniques on Landsat 8 OLI sensor data 4
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome 4
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis 4
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome 4
Will GWAS eventually allow the identification of genomic biomarkers for COVID-19 severity and mortality? 4
Arrhythmogenic cardiomyopathy in children according to "Padua criteria": Single pediatric center experience 4
Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies 4
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias 4
KBG syndrome: Common and uncommon clinical features based on 31 new patients 4
Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition? 4
CUGC for lysinuric protein intolerance (LPI) 4
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision 4
Facial clues to the photosensitive trichothiodystrophy phenotype in childhood 4
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency 4
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs 3
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6 3
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13 3
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up 3
Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation 3
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 3
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: A study of 53 patients and review of the literature 3
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy 3
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation 3
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy 3
Spectrum of epilepsy in terminal 1p36 deletion syndrome 3
Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited 3
Erratum: Next-generation sequencing identifies different genetic defects in 2 patients with primary adrenal insufficiency and gonadotropin-independent precocious puberty (Hormone Research in Paediatrics (2018) 90 (203-211) DOI: 10.1159/000492496) 3
Developmental incompetent preimplantation embryo: a two Societies consensus 3
Intractable diarrhea in infancy and molecular analysis: We are beyond the tip of the iceberg 3
TBX2 Gene Duplication Associated With Complex Heart Defect and Skeletal Malformations 3
Inhibition of HECT E3 ligases as potential therapy for COVID-19 3
Totale 476
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Categoria #
all - tutte 5.840
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 5.840
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2024/20251.165 0 0 0 8 65 75 144 559 163 151 0 0
Totale 1.165