ArTS Archivio della ricerca di Trieste

FALETRA, FLAVIO
 Distribuzione geografica
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Continente #
NA - Nord America 4.602
AS - Asia 2.883
EU - Europa 2.853
SA - Sud America 385
AF - Africa 124
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 1
Totale 10.855
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Nazione #
US - Stati Uniti d'America 4.496
SG - Singapore 1.066
PL - Polonia 740
CN - Cina 601
IT - Italia 483
SE - Svezia 412
VN - Vietnam 359
HK - Hong Kong 331
BR - Brasile 305
FR - Francia 202
DE - Germania 195
RU - Federazione Russa 137
KR - Corea 131
GB - Regno Unito 117
NL - Olanda 111
FI - Finlandia 90
BG - Bulgaria 87
IN - India 73
TR - Turchia 66
IE - Irlanda 60
UA - Ucraina 56
MX - Messico 50
BE - Belgio 38
CA - Canada 37
JP - Giappone 34
BD - Bangladesh 33
AR - Argentina 31
IQ - Iraq 30
MA - Marocco 30
SN - Senegal 24
AT - Austria 23
ZA - Sudafrica 23
CH - Svizzera 22
ES - Italia 22
PK - Pakistan 21
IR - Iran 18
ID - Indonesia 15
LT - Lituania 15
EG - Egitto 13
MY - Malesia 12
UZ - Uzbekistan 12
SA - Arabia Saudita 11
IL - Israele 10
VE - Venezuela 9
AE - Emirati Arabi Uniti 8
CO - Colombia 8
EC - Ecuador 8
JO - Giordania 8
KE - Kenya 8
PH - Filippine 7
AU - Australia 6
AZ - Azerbaigian 6
BO - Bolivia 6
CL - Cile 6
CZ - Repubblica Ceca 6
DZ - Algeria 6
PT - Portogallo 6
PY - Paraguay 6
PE - Perù 5
TH - Thailandia 5
NI - Nicaragua 4
NP - Nepal 4
PA - Panama 4
RO - Romania 4
TN - Tunisia 4
AL - Albania 3
DK - Danimarca 3
ET - Etiopia 3
GE - Georgia 3
GR - Grecia 3
HU - Ungheria 3
IS - Islanda 3
KZ - Kazakistan 3
NO - Norvegia 3
OM - Oman 3
TT - Trinidad e Tobago 3
BW - Botswana 2
CI - Costa d'Avorio 2
CR - Costa Rica 2
HR - Croazia 2
JM - Giamaica 2
LA - Repubblica Popolare Democratica del Laos 2
LK - Sri Lanka 2
NG - Nigeria 2
SK - Slovacchia (Repubblica Slovacca) 2
TW - Taiwan 2
AF - Afghanistan, Repubblica islamica di 1
AO - Angola 1
BA - Bosnia-Erzegovina 1
BI - Burundi 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CG - Congo 1
CY - Cipro 1
DO - Repubblica Dominicana 1
EE - Estonia 1
EU - Europa 1
GW - Guinea-Bissau 1
GY - Guiana 1
HN - Honduras 1
Totale 10.843
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Città #
Warsaw 675
Ashburn 632
Singapore 626
Chandler 403
Hong Kong 315
Fairfield 282
San Jose 279
Houston 219
Woodbridge 212
Ann Arbor 154
Seattle 143
Beijing 142
Wilmington 129
Seoul 124
Trieste 120
Boardman 114
Los Angeles 113
Ho Chi Minh City 103
Princeton 100
Cambridge 92
Hefei 92
Sofia 87
Jacksonville 84
Columbus 82
Hanoi 78
Chicago 72
Council Bluffs 65
Lauterbourg 65
Santa Clara 63
Dublin 59
Dearborn 58
Moscow 58
New York 54
Zgierz 54
Frankfurt am Main 52
Helsinki 50
Dallas 43
The Dalles 43
Milan 39
London 37
Brussels 35
São Paulo 34
Munich 31
Dong Ket 28
Bremen 27
Buffalo 27
Izmir 27
Nuremberg 26
Tokyo 26
Orem 25
Bar-le-Duc 24
Casablanca 24
Dakar 24
Düsseldorf 22
Guangzhou 21
Stockholm 19
Redondo Beach 18
Atlanta 17
Bern 17
Amsterdam 15
Shanghai 15
Da Nang 14
Denver 14
Des Moines 14
Haiphong 14
Brooklyn 13
Chennai 13
Lappeenranta 13
Montreal 13
Mumbai 13
San Diego 13
Washington 13
Manchester 12
Boydton 11
Johannesburg 11
Mexico City 11
Phoenix 11
Tashkent 11
Turku 11
Jinan 10
Paris 10
Redwood City 10
Ankara 9
Brasília 9
Falls Church 9
North Bergen 9
Petaling Jaya 9
Vienna 9
Biên Hòa 8
Central 8
Istanbul 8
Naples 8
Tianjin 8
Bologna 7
Boston 7
Hải Dương 7
Kunming 7
Nanjing 7
Portsmouth 7
Pune 7
Totale 7.112
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Nome #
Developmental dyslexia and its complex genetic puzzle 422
Type i interferon-mediated autoinflammation due to DNase II deficiency 388
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. 379
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations 351
A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome 286
The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles 281
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 276
Evidence of Inbreeding Depression on Human Height 254
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation 243
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability 242
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12 239
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 228
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature 226
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss 217
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature 204
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature 203
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma 196
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies 184
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 182
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 180
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL 177
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations 176
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism 172
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet 172
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures 170
Genetic analysis of Italian patients with congenital tufting enteropathy 168
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition 154
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge 153
Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies 152
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 152
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates 151
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry 149
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 148
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome 144
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 144
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature 143
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 140
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss 140
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study 138
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability. 137
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss 136
Could the MED13 mutations manifest as a Kabuki-like syndrome? 134
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature 133
Prenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomes 131
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 131
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders 130
Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis 129
A Child With Self-Improving Hypotonia: Look at the Skin! 127
Infant with a big head and 'crossed' polysyndactyly 125
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes 125
null 124
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease 124
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 123
When salt is needed to grow: Answers 123
Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report 122
An unusual diagnosis for an usual test 121
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 121
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance 114
When salt is needed to grow: Questions 113
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? 111
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss 110
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency 107
TBC1D24 and non-syndromic autosomal dominant hearing loss: the identification of an additional Italo-American family carrying the p.(S178L) mutation 102
Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome 75
Totale 11.152
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Categoria #
all - tutte 35.750
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 35.750
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021164 0 0 0 0 0 0 0 0 0 62 51 51
2021/2022729 42 24 110 55 66 43 18 17 84 60 32 178
2022/20231.297 106 166 87 168 131 214 27 132 133 28 78 27
2023/2024996 58 63 73 68 83 104 207 184 19 20 67 50
2024/20251.795 23 83 121 177 154 162 115 96 268 241 166 189
2025/20263.830 566 167 228 407 403 382 631 128 403 515 0 0
Totale 11.152