IRIS
FALETRA, Flavio
 Distribuzione geografica
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Continente #
AS - Asia 783
NA - Nord America 601
EU - Europa 331
SA - Sud America 90
AF - Africa 27
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 1.834
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Nazione #
US - Stati Uniti d'America 571
SG - Singapore 338
CN - Cina 182
FR - Francia 116
VN - Vietnam 88
IT - Italia 71
BR - Brasile 61
DE - Germania 49
HK - Hong Kong 46
IN - India 36
RU - Federazione Russa 20
BD - Bangladesh 17
AR - Argentina 16
MX - Messico 13
GB - Regno Unito 12
TR - Turchia 12
ZA - Sudafrica 12
NL - Olanda 11
ES - Italia 10
FI - Finlandia 10
CA - Canada 9
IQ - Iraq 9
ID - Indonesia 8
IE - Irlanda 7
PK - Pakistan 7
SA - Arabia Saudita 7
JP - Giappone 6
KR - Corea 5
UZ - Uzbekistan 5
AT - Austria 4
CL - Cile 4
JO - Giordania 4
VE - Venezuela 4
EC - Ecuador 3
EG - Egitto 3
MA - Marocco 3
SE - Svezia 3
UA - Ucraina 3
AE - Emirati Arabi Uniti 2
BE - Belgio 2
CR - Costa Rica 2
CZ - Repubblica Ceca 2
DZ - Algeria 2
ET - Etiopia 2
JM - Giamaica 2
KE - Kenya 2
LB - Libano 2
NP - Nepal 2
PH - Filippine 2
PL - Polonia 2
RS - Serbia 2
TH - Thailandia 2
UY - Uruguay 2
AD - Andorra 1
AU - Australia 1
AZ - Azerbaigian 1
BZ - Belize 1
CG - Congo 1
CH - Svizzera 1
DO - Repubblica Dominicana 1
HN - Honduras 1
HU - Ungheria 1
LV - Lettonia 1
MT - Malta 1
MU - Mauritius 1
PR - Porto Rico 1
PS - Palestinian Territory 1
RO - Romania 1
SC - Seychelles 1
SK - Slovacchia (Repubblica Slovacca) 1
TJ - Tagikistan 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 1.834
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Città #
Singapore 130
Lauterbourg 105
San Jose 103
Ashburn 86
Council Bluffs 84
Hong Kong 43
Ho Chi Minh City 29
Beijing 26
New York 23
Los Angeles 22
Hanoi 19
Munich 16
Orem 15
Jinan 10
Nuremberg 10
Seattle 10
São Paulo 10
Houston 9
North Bergen 9
Trieste 9
Fairfield 8
Frankfurt am Main 8
Amsterdam 7
Baghdad 7
Chicago 7
Dublin 7
Johannesburg 7
Denver 6
Hefei 6
Mumbai 6
New Delhi 6
Redondo Beach 6
Rome 6
Santa Clara 6
Turku 6
Atlanta 5
Buffalo 5
Dallas 5
Dhaka 5
Dong Ket 5
Milan 5
Montreal 5
Phoenix 5
Seoul 5
Tokyo 5
Udine 5
Woodbridge 5
Boston 4
Falkenstein 4
Haiphong 4
Jaipur 4
Shanghai 4
Tashkent 4
Amman 3
Ankara 3
Boardman 3
Cambridge 3
Chennai 3
Dammam 3
Dearborn 3
Düsseldorf 3
Ferrandina 3
Guangzhou 3
Hangzhou 3
Helsinki 3
Hải Dương 3
Jacksonville 3
London 3
Madrid 3
Mexico City 3
Ninh Bình 3
Riyadh 3
Stockholm 3
Venice 3
Wilmington 3
Addis Ababa 2
Aracati 2
Bad Soden am Taunus 2
Belgrade 2
Bologna 2
Brasília 2
Brooklyn 2
Brussels 2
Buenos Aires 2
Cairo 2
City of London 2
Columbus 2
Da Nang 2
Delhi 2
Florence 2
Goiânia 2
Huế 2
Izmir 2
Karachi 2
Lahore 2
Manchester 2
Maracaibo 2
Miami 2
Montevideo 2
Moscow 2
Totale 1.067
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Nome #
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis 147
Longitudinal detection of somatic mutations in the saliva of head and neck squamous cell carcinoma–affected patients: a pilot study 98
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases 93
The molecular landscape of hereditary ataxia: a single-center study 92
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance 88
The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases 68
Hydrops fetalis associated with SARS-CoV-2 placentitis and de novo CDK13 mutation: An integrated genetic and histological analysis 67
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management 55
Hypoglycaemia due to hyperinsulinism: Diagnosis, causes and management 42
A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant. 40
The clinical impact of the first-trimester nuchal translucency between the 95th–99th percentiles 37
Prognostic role of genetic variants in recurrent pericarditis 35
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12 29
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly 26
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 26
Evidence of inbreeding depression on human height 24
Could the MED13 mutations manifest as a Kabuki-like syndrome? 23
Two novel COH1 mutations in an Italian patient with Cohen syndrome 20
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 19
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature 19
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss 19
A new neurodevelopmental disorder linked to heterozygous variants in UNC79 18
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene 18
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 18
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 17
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin 17
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature 17
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation 16
Dental phenotype in a patient with hypoidrotic ectodermal dysplasia and severe immunodeficiency 16
Detection of epidermal thickening in GJB2 carriers with epidermal US1 16
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 16
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss 16
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss 16
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability 16
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations 16
Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures 16
Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report 15
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? 15
From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome 15
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet 14
Immunity and genetics at the revolving doors of diagnostics in primary immunodeficiencies 14
Buried in the middle but guilty: Intronic mutations in the TCIRG1 gene cause human autosomal recessive osteopetrosis 14
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature 14
A case of prenatal neurocytoma associated with ATR-16 syndrome 14
PMM2-CDG: Phenotype and genotype in four affected family members 14
Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation* 14
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 14
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development 14
Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis 13
An unusual diagnosis for an usual test 13
Does the 1.5Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature 13
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome 13
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome 13
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection 13
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 13
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature 13
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma 13
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 12
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family 12
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study 12
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements 12
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature 12
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry 12
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta 12
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability 11
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants 11
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL 11
Genetic analysis of Italian patients with congenital tufting enteropathy 11
"blaschkoid dyspigmentation" in a child: Don't forget fibroblast chromosomal analysis 11
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge 11
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure 11
Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP 11
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 11
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHIES: FROM PRACTICE TO GENETICS 11
Afebrile seizures in infants: Never forget magnesium! 11
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study 11
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 11
Focal congenital hyperinsulinism managed by medical treatment: A diagnostic algorithm based on molecular genetic screening 11
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families 11
Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling 10
A neonate with a 'milky' blood. What can it be? 10
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations 10
When salt is needed to grow: Answers 10
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders 10
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability 10
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 10
A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family 10
Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort 10
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss 10
Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report∗ 10
A brain and heart connection: X-linked periventricular heterotopia 9
Infant with a big head and ‘crossed’ polysyndactyly 9
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease 9
Myoclonic Absences and other Novel Findings in Warburg Micro Syndrome: Clinical Report of an Expanding RAB18 Phenotype 9
When fingers point to the diagnosis 9
A red baby should not be taken too lightly 9
Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene 9
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4 9
Delayed diagnosis of glycogen storage disease type III 9
Type i interferon-mediated autoinflammation due to DNase II deficiency 9
Totale 2.053
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Categoria #
all - tutte 5.928
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 5.928
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20217 0 0 0 0 0 0 0 0 0 1 0 6
2021/20226 0 1 0 0 0 0 1 0 0 2 1 1
2022/20236 2 0 1 0 0 1 0 0 0 1 0 1
2023/202411 1 0 0 1 1 0 0 0 6 0 0 2
2024/2025218 7 3 6 22 5 11 14 8 20 15 58 49
2025/20261.886 45 65 47 75 266 387 383 145 168 305 0 0
Totale 2.195