ArTS Archivio della ricerca di Trieste

FALETRA, FLAVIO
 Distribuzione geografica
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Continente #
NA - Nord America 5.275
AS - Asia 3.021
EU - Europa 3.011
SA - Sud America 395
Continente sconosciuto - Info sul continente non disponibili 298
AF - Africa 125
OC - Oceania 7
Totale 12.132
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Nazione #
US - Stati Uniti d'America 5.124
SG - Singapore 1.071
PL - Polonia 741
IT - Italia 626
CN - Cina 617
SE - Svezia 416
VN - Vietnam 359
HK - Hong Kong 336
BR - Brasile 311
FR - Francia 202
DE - Germania 195
BD - Bangladesh 140
RU - Federazione Russa 137
KR - Corea 131
GB - Regno Unito 117
NL - Olanda 114
FI - Finlandia 90
BG - Bulgaria 87
IN - India 73
TR - Turchia 67
IE - Irlanda 60
CA - Canada 56
UA - Ucraina 56
MX - Messico 52
BE - Belgio 38
JP - Giappone 36
AR - Argentina 31
MA - Marocco 31
IQ - Iraq 30
AT - Austria 24
SN - Senegal 24
ES - Italia 23
ZA - Sudafrica 23
CH - Svizzera 22
PK - Pakistan 21
IR - Iran 18
ID - Indonesia 16
LT - Lituania 15
EG - Egitto 13
MY - Malesia 12
UZ - Uzbekistan 12
SA - Arabia Saudita 11
CO - Colombia 10
IL - Israele 10
VE - Venezuela 9
AE - Emirati Arabi Uniti 8
CL - Cile 8
EC - Ecuador 8
JO - Giordania 8
KE - Kenya 8
PH - Filippine 7
TT - Trinidad e Tobago 7
AL - Albania 6
AU - Australia 6
AZ - Azerbaigian 6
BO - Bolivia 6
CR - Costa Rica 6
CZ - Repubblica Ceca 6
DZ - Algeria 6
JM - Giamaica 6
PT - Portogallo 6
PY - Paraguay 6
NI - Nicaragua 5
PE - Perù 5
TH - Thailandia 5
HR - Croazia 4
NP - Nepal 4
PA - Panama 4
RO - Romania 4
TN - Tunisia 4
DK - Danimarca 3
ET - Etiopia 3
GE - Georgia 3
GR - Grecia 3
GT - Guatemala 3
HU - Ungheria 3
IS - Islanda 3
KZ - Kazakistan 3
NO - Norvegia 3
OM - Oman 3
BB - Barbados 2
BW - Botswana 2
CI - Costa d'Avorio 2
GP - Guadalupe 2
HN - Honduras 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
BS - Bahamas 1
BY - Bielorussia 1
CG - Congo 1
CY - Cipro 1
DO - Repubblica Dominicana 1
Totale 11.816
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Città #
Ashburn 743
Warsaw 676
Singapore 631
Chandler 403
San Jose 349
Hong Kong 320
Fairfield 282
Houston 221
Woodbridge 212
Council Bluffs 171
Ann Arbor 154
Beijing 148
Seattle 145
Wilmington 129
Los Angeles 124
Seoul 124
Trieste 122
Boardman 114
Ho Chi Minh City 103
Princeton 100
Columbus 96
Cambridge 92
Hefei 92
Sofia 87
Jacksonville 84
Chicago 81
Santa Clara 79
Hanoi 78
New York 78
Milan 67
Lauterbourg 65
Dublin 59
Dearborn 58
Moscow 58
Zgierz 54
Dallas 53
Frankfurt am Main 52
Helsinki 50
The Dalles 43
London 37
Brussels 35
São Paulo 35
Buffalo 34
Munich 31
Dong Ket 28
Bremen 27
Izmir 27
Nuremberg 26
Orem 26
Tokyo 26
Casablanca 25
Atlanta 24
Bar-le-Duc 24
Dakar 24
Düsseldorf 22
Guangzhou 22
Phoenix 21
Stockholm 19
Redondo Beach 18
Bern 17
Brooklyn 16
Rome 16
Shanghai 16
Amsterdam 15
Montreal 15
Washington 15
Da Nang 14
Denver 14
Des Moines 14
Haiphong 14
Naples 14
San Diego 14
Chennai 13
Lappeenranta 13
Mumbai 13
Manchester 12
Boston 11
Boydton 11
Johannesburg 11
Mexico City 11
Tashkent 11
Turku 11
Brasília 10
Jinan 10
Paris 10
Redwood City 10
Ankara 9
Bologna 9
Falls Church 9
Miano 9
North Bergen 9
Petaling Jaya 9
Toronto 9
Vienna 9
Biên Hòa 8
Central 8
Istanbul 8
Tianjin 8
Verona 8
Charlotte 7
Totale 7.598
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Nome #
Developmental dyslexia and its complex genetic puzzle 442
Type i interferon-mediated autoinflammation due to DNase II deficiency 419
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. 391
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 362
The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles 300
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 291
A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome 290
Evidence of Inbreeding Depression on Human Height 270
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 264
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation 263
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability 256
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature 249
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12 247
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss 239
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature 214
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature 213
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma 210
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures 208
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies 199
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 197
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 194
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism 188
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability. 186
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations 186
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet 184
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL 181
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study 177
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry 177
Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies 175
Genetic analysis of Italian patients with congenital tufting enteropathy 174
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 174
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 166
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition 164
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates 163
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 163
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge 161
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature 158
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss 155
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders 150
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome 150
Prenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomes 149
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 149
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature 148
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance 146
Could the MED13 mutations manifest as a Kabuki-like syndrome? 145
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss 143
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 143
An unusual diagnosis for an usual test 141
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 139
A Child With Self-Improving Hypotonia: Look at the Skin! 139
Infant with a big head and 'crossed' polysyndactyly 137
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 137
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes 134
Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis 132
Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report 132
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease 130
When salt is needed to grow: Questions 127
When salt is needed to grow: Answers 126
null 124
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss 119
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? 117
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency 114
TBC1D24 and non-syndromic autosomal dominant hearing loss: the identification of an additional Italo-American family carrying the p.(S178L) mutation 110
Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome 101
Totale 12.132
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Categoria #
all - tutte 40.588
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 40.588
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022663 0 0 110 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
2025/20264.372 566 167 228 407 403 382 631 128 403 611 235 211
2026/2027438 152 170 116 0 0 0 0 0 0 0 0 0
Totale 12.132