IRIS
FALETRA, Flavio
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 1.105
AS - Asia 841
EU - Europa 394
SA - Sud America 90
AF - Africa 27
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 2.459
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 1.062
SG - Singapore 341
CN - Cina 193
IT - Italia 131
FR - Francia 116
VN - Vietnam 88
BR - Brasile 61
BD - Bangladesh 59
DE - Germania 49
HK - Hong Kong 48
IN - India 36
RU - Federazione Russa 20
CA - Canada 18
AR - Argentina 16
GB - Regno Unito 13
MX - Messico 13
NL - Olanda 12
TR - Turchia 12
ZA - Sudafrica 12
ES - Italia 11
FI - Finlandia 10
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
CR - Costa Rica 3
EC - Ecuador 3
EG - Egitto 3
MA - Marocco 3
SE - Svezia 3
UA - Ucraina 3
AE - Emirati Arabi Uniti 2
BE - Belgio 2
CZ - Repubblica Ceca 2
DZ - Algeria 2
ET - Etiopia 2
HN - Honduras 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
DM - Dominica 1
DO - Repubblica Dominicana 1
HU - Ungheria 1
LV - Lettonia 1
MT - Malta 1
MU - Mauritius 1
NI - Nicaragua 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 2.459
Salva come PNG Salva come JPEG
Città #
Council Bluffs 246
San Jose 237
Singapore 130
Lauterbourg 105
Ashburn 100
Boardman 65
Hong Kong 45
New York 36
Beijing 32
Los Angeles 32
Ho Chi Minh City 29
Hanoi 19
Remanzacco 18
Orem 17
Munich 16
Santa Clara 13
Trieste 13
Seattle 11
Houston 10
Jinan 10
Nuremberg 10
São Paulo 10
Milan 9
North Bergen 9
Phoenix 9
Chicago 8
Fairfield 8
Frankfurt am Main 8
Montreal 8
Rome 8
Amsterdam 7
Baghdad 7
Buffalo 7
Dallas 7
Denver 7
Dublin 7
Johannesburg 7
Atlanta 6
Hefei 6
Mumbai 6
New Delhi 6
Redondo Beach 6
Shanghai 6
Turku 6
Dhaka 5
Dong Ket 5
Seoul 5
Tokyo 5
Udine 5
Woodbridge 5
Bologna 4
Boston 4
Falkenstein 4
Haiphong 4
Jacksonville 4
Jaipur 4
London 4
Naples 4
Tashkent 4
Toronto 4
Amman 3
Ankara 3
Brooklyn 3
Cambridge 3
Catania 3
Chennai 3
Dammam 3
Dearborn 3
Düsseldorf 3
Ferrandina 3
Guangzhou 3
Hangzhou 3
Helsinki 3
Hải Dương 3
Las Vegas 3
Madrid 3
Mexico City 3
Miami 3
Ninh Bình 3
Philadelphia 3
Pittsburgh 3
Riyadh 3
San Francisco 3
Stockholm 3
Venice 3
Wilmington 3
Addis Ababa 2
Aracati 2
Bad Soden am Taunus 2
Belgrade 2
Brasília 2
Brussels 2
Buenos Aires 2
Cairo 2
City of London 2
Cleveland 2
Columbus 2
Da Nang 2
Delhi 2
Florence 2
Totale 1.538
Salva come PNG Salva come JPEG
Nome #
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis 152
The molecular landscape of hereditary ataxia: a single-center study 126
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases 121
Longitudinal detection of somatic mutations in the saliva of head and neck squamous cell carcinoma–affected patients: a pilot study 105
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance 97
Hydrops fetalis associated with SARS-CoV-2 placentitis and de novo CDK13 mutation: An integrated genetic and histological analysis 78
The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases 76
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management 61
Hypoglycaemia due to hyperinsulinism: Diagnosis, causes and management 51
Prognostic role of genetic variants in recurrent pericarditis 49
A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant. 46
The clinical impact of the first-trimester nuchal translucency between the 95th–99th percentiles 44
Two novel COH1 mutations in an Italian patient with Cohen syndrome 41
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly 38
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12 36
Evidence of inbreeding depression on human height 32
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma 32
Could the MED13 mutations manifest as a Kabuki-like syndrome? 30
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 30
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene 24
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet 23
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 22
Detection of epidermal thickening in GJB2 carriers with epidermal US1 22
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 22
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss 22
From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome 22
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss 22
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation 21
Buried in the middle but guilty: Intronic mutations in the TCIRG1 gene cause human autosomal recessive osteopetrosis 21
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss 21
PMM2-CDG: Phenotype and genotype in four affected family members 21
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 21
Immunity and genetics at the revolving doors of diagnostics in primary immunodeficiencies 20
A new neurodevelopmental disorder linked to heterozygous variants in UNC79 20
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? 20
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations 20
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature 20
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature 20
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 19
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability 19
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin 19
Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures 19
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family 18
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants 18
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL 18
Genetic analysis of Italian patients with congenital tufting enteropathy 18
Dental phenotype in a patient with hypoidrotic ectodermal dysplasia and severe immunodeficiency 18
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature 18
A case of prenatal neurocytoma associated with ATR-16 syndrome 18
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome 18
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 18
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge 18
Prenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomes 18
Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report 17
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study 17
Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation* 17
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 17
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry 17
Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis 16
Does the 1.5Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature 16
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection 16
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 16
Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP 16
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 16
An unusual diagnosis for an usual test 15
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 15
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability 15
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes 15
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements 15
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations 15
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome 15
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development 15
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature 15
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature 15
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 15
Myoclonic Absences and other Novel Findings in Warburg Micro Syndrome: Clinical Report of an Expanding RAB18 Phenotype 14
When fingers point to the diagnosis 14
Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series 14
When salt is needed to grow: Answers 14
Genetic variants in patients with recurrent pericarditis 14
Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene 14
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders 14
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4 14
A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family 14
Type i interferon-mediated autoinflammation due to DNase II deficiency 14
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study 14
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta 14
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism 13
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition 13
A girl with photosensitivity and hepatic steatosis 13
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease 13
"blaschkoid dyspigmentation" in a child: Don't forget fibroblast chromosomal analysis 13
Conjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1 13
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure 13
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHIES: FROM PRACTICE TO GENETICS 13
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 13
Focal congenital hyperinsulinism managed by medical treatment: A diagnostic algorithm based on molecular genetic screening 13
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 13
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss 13
A neonate with a 'milky' blood. What can it be? 12
Totale 2.605
Salva come PNG Salva come JPEG
Categoria #
all - tutte 8.664
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 8.664
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20216 0 0 0 0 0 0 0 0 0 0 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
2025/20262.516 45 65 47 75 266 387 383 145 168 363 417 155
Totale 2.825