IRIS
GIORGIO, ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 2.239
AS - Asia 1.657
EU - Europa 1.260
SA - Sud America 296
AF - Africa 79
OC - Oceania 6
Totale 5.537
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Nazione #
US - Stati Uniti d'America 2.183
CN - Cina 426
SG - Singapore 425
IE - Irlanda 397
HK - Hong Kong 289
IT - Italia 254
VN - Vietnam 232
BR - Brasile 222
RU - Federazione Russa 214
FR - Francia 94
DE - Germania 88
IN - India 62
GB - Regno Unito 58
FI - Finlandia 46
ZA - Sudafrica 45
BD - Bangladesh 42
JP - Giappone 31
CA - Canada 30
AR - Argentina 27
IQ - Iraq 24
SE - Svezia 18
MX - Messico 17
AT - Austria 14
MY - Malesia 13
ES - Italia 12
IR - Iran 12
TR - Turchia 12
CO - Colombia 11
NL - Olanda 11
EC - Ecuador 10
ID - Indonesia 10
PK - Pakistan 10
UZ - Uzbekistan 10
VE - Venezuela 10
MA - Marocco 9
PL - Polonia 9
BE - Belgio 8
SA - Arabia Saudita 8
AZ - Azerbaigian 6
TN - Tunisia 6
AU - Australia 5
CL - Cile 5
PE - Perù 5
PH - Filippine 5
AE - Emirati Arabi Uniti 4
CH - Svizzera 4
IL - Israele 4
JO - Giordania 4
KZ - Kazakistan 4
NP - Nepal 4
OM - Oman 4
CZ - Repubblica Ceca 3
EE - Estonia 3
EG - Egitto 3
ET - Etiopia 3
GR - Grecia 3
JM - Giamaica 3
NG - Nigeria 3
PT - Portogallo 3
UA - Ucraina 3
BN - Brunei Darussalam 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
HU - Ungheria 2
KE - Kenya 2
KG - Kirghizistan 2
KR - Corea 2
LT - Lituania 2
MW - Malawi 2
NO - Norvegia 2
PY - Paraguay 2
RO - Romania 2
RS - Serbia 2
UY - Uruguay 2
AL - Albania 1
BO - Bolivia 1
BW - Botswana 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
CR - Costa Rica 1
FK - Isole Falkland (Malvinas) 1
GE - Georgia 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
IM - Isola di Man 1
KH - Cambogia 1
LB - Libano 1
LU - Lussemburgo 1
LV - Lettonia 1
MM - Myanmar 1
MN - Mongolia 1
MZ - Mozambico 1
NZ - Nuova Zelanda 1
PR - Porto Rico 1
QA - Qatar 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
TH - Thailandia 1
Totale 5.534
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Città #
Dublin 397
San Jose 358
Hong Kong 282
Dallas 248
Ashburn 229
Chandler 196
Singapore 187
Beijing 131
Boardman 99
Ho Chi Minh City 81
Lauterbourg 77
Princeton 69
Lawrence 66
Los Angeles 66
Shanghai 60
Council Bluffs 58
Hanoi 55
Milan 46
Redondo Beach 41
Johannesburg 40
Medford 37
Moscow 35
New York 35
Munich 33
Buffalo 32
Helsinki 32
São Paulo 28
Tokyo 28
Chicago 22
Santa Clara 20
Orem 19
The Dalles 18
Da Nang 14
London 14
Pavia 14
Denver 13
Montreal 13
Nanjing 13
Nuremberg 13
Turku 13
Atlanta 12
Chennai 12
Rome 12
Seattle 12
Bologna 11
Phoenix 10
Rio de Janeiro 10
Stockholm 10
Brooklyn 9
Frankfurt am Main 9
L’Aquila 9
Tashkent 9
Warsaw 9
Columbus 8
Guangzhou 8
Mexico City 8
Baghdad 7
Belo Horizonte 7
Ludhiana 7
Poplar 7
Zanjan 7
Brasília 6
Brussels 6
Caracas 6
Dhaka 6
Elk Grove Village 6
Manchester 6
Baku 5
Boston 5
Changsha 5
Charlotte 5
Chongqing 5
Contagem 5
Grand Rapids 5
Hyderabad 5
Medellín 5
New Delhi 5
Paris 5
Sacramento 5
San Francisco 5
Teramo 5
Toronto 5
Turin 5
Amman 4
Ankara 4
Buenos Aires 4
Curitiba 4
Delhi 4
Florence 4
Haiphong 4
Houston 4
Hải Dương 4
Jakarta 4
Lahore 4
Mumbai 4
Quảng Ngãi 4
Riyadh 4
Shenzhen 4
Sydney 4
Thái Nguyên 4
Totale 3.609
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Nome #
Mapping the human genetic architecture of COVID-19 194
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 123
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 104
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 99
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis 97
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 93
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 93
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 93
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 92
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 89
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy 89
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 88
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 86
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 85
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations 85
Terapia mediata da RNA di interferenza per malattie neurodegenerative 84
A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 81
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 79
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 78
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 74
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 74
A SPORADIC CASE OF AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) 73
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 71
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 69
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder 68
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study 68
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 68
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 68
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 68
A NOVEL 3Q29 DELETION ASSOCIATED WITH AUTISM, INTELLECTUAL DISABILITY, PSYCHIATRIC DISORDERS, AND OBESITY 67
DLG4-related synaptopathy: a new rare brain disorder 66
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity 65
De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage 65
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review 65
Novel mutation of SLC20A2 in an Italian patient presenting with migraine 64
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 64
A novel cct5 missense variant associated with early onset motor neuropathy 64
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis 64
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 63
Contribution of autosomal rare and de novo variants to sex differences in autism 63
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 62
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy 61
O056. Migraine as presenting symptom of SLC20A2gene mutations 61
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 60
AN ATYPICAL FORM OF AOA2 WITH MYOCLONUS ASSOCIATED WITH MUTATIONS IN SETX AND AFG3L2 60
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient 60
Recessive gene disruptions in autism spectrum disorder 59
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question 57
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease 57
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum 56
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH 56
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment 56
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 56
RNA therapeutics for neurological diseases 55
Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes 55
Strategie molecolari per la correzione di anomalie cromosomiche 54
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation 54
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 53
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 53
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 51
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy 50
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 50
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation 49
Messanger RNA processing is altered in autosomal dominant leukodystrophy 49
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum 48
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease 48
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients 47
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 47
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency 44
Cover Image, Volume 170A, Number 7, July 2016 44
HEALTH TECHNOLOGY ASSESSMENT OF GENETIC TESTING FOR SUSCEPTIBILITY TO VENOUS THROMBOEMBOLISM IN ITALY 44
Lamin B1 as a key modulator of the developing and aging brain 42
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5) 42
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models 41
Functional and clinical implications of genetic structure in 1686 Italian exomes 41
SLC20A1 Is Involved in Urinary Tract and Urorectal Development 41
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 39
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 39
Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification 38
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations 38
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 37
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother 37
Provision of genetic testing for inherited thrombophilia in Italy 37
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 37
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy 37
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1 -Related Autosomal Dominant Leukodystrophy 36
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 35
The impact of clinical genome sequencing in a global population with suspected rare genetic disease 34
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation 34
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples 32
Two families with novel missense mutations in COL4A1: When diagnosis can be missed 31
High miR-100 expression is associated with aggressive features and modulates TORC1 complex activation in lung carcinoids 29
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing 28
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition 13
Deleterious coding variation associated with autism is shared across ancestries 2
Totale 5.719
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Categoria #
all - tutte 29.627
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 29.627
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022255 0 0 0 0 0 0 0 84 6 4 27 134
2022/2023821 110 51 5 17 50 57 1 44 455 7 18 6
2023/2024459 35 41 10 21 33 99 61 18 5 13 12 111
2024/20251.173 42 97 6 3 10 56 53 60 314 58 144 330
2025/20263.008 218 306 268 299 333 82 539 176 315 238 160 74
Totale 5.719