ArTS Archivio della ricerca di Trieste

FALETRA, FLAVIO
 Distribuzione geografica
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Continente #
NA - Nord America 2.702
EU - Europa 1.832
AS - Asia 685
AF - Africa 36
OC - Oceania 5
SA - Sud America 4
Continente sconosciuto - Info sul continente non disponibili 1
Totale 5.265
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Nazione #
US - Stati Uniti d'America 2.686
PL - Polonia 644
SE - Svezia 392
IT - Italia 336
CN - Cina 226
HK - Hong Kong 212
SG - Singapore 90
BG - Bulgaria 87
DE - Germania 53
IE - Irlanda 53
TR - Turchia 49
UA - Ucraina 46
FI - Finlandia 45
FR - Francia 43
BE - Belgio 35
VN - Vietnam 33
GB - Regno Unito 31
SN - Senegal 24
CH - Svizzera 17
IN - India 16
IR - Iran 14
RU - Federazione Russa 14
KR - Corea 13
CA - Canada 11
NL - Olanda 11
MY - Malesia 10
JP - Giappone 9
PK - Pakistan 6
EG - Egitto 5
ZA - Sudafrica 5
AT - Austria 4
AU - Australia 4
ES - Italia 4
IL - Israele 4
MX - Messico 4
BR - Brasile 3
CZ - Repubblica Ceca 3
IS - Islanda 3
PT - Portogallo 3
HR - Croazia 2
NO - Norvegia 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
CO - Colombia 1
DK - Danimarca 1
EU - Europa 1
GR - Grecia 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
NG - Nigeria 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
RO - Romania 1
SC - Seychelles 1
Totale 5.265
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Città #
Warsaw 640
Chandler 403
Fairfield 282
Ashburn 236
Woodbridge 212
Houston 210
Hong Kong 204
Ann Arbor 154
Seattle 139
Wilmington 129
Princeton 100
Trieste 95
Cambridge 92
Sofia 87
Jacksonville 84
Beijing 64
Dearborn 57
Dublin 53
Boardman 47
Singapore 46
Brussels 33
Dong Ket 28
Bremen 27
Izmir 27
Helsinki 25
Bar-le-Duc 24
Columbus 24
Dakar 24
Milan 18
Bern 16
Guangzhou 16
Des Moines 14
San Diego 12
Shanghai 12
Washington 12
Boydton 10
Los Angeles 10
Redwood City 10
Falls Church 9
Jinan 9
Petaling Jaya 9
Central 8
Hefei 8
Seoul 8
Nanjing 7
New York 7
Triggiano 7
Farnborough 6
Fremont 6
Paris 6
Udine 6
Zanjan 6
Ankara 5
Hangzhou 5
Hebei 5
Istanbul 5
Kunming 5
Lappeenranta 5
London 5
Tokyo 5
Bologna 4
Dongguan 4
Edinburgh 4
Germiston 4
Kocaeli 4
Kraków 4
Leawood 4
Montegalda 4
Monterrey 4
Nanchang 4
Naples 4
Norwalk 4
Phoenix 4
Pune 4
Romainville 4
Shenyang 4
Vienna 4
Walthamstow 4
Brisbane 3
Brno 3
Changsha 3
Fuzhou 3
Genoa 3
Huế 3
Mumbai 3
Ottawa 3
Portogruaro 3
Redmond 3
Santa Clara 3
Sao Joao de Ver 3
Tel Aviv 3
Turin 3
Uijeongbu-si 3
Venezia 3
Woodbury 3
Adapazarı 2
Ahvaz 2
Amsterdam 2
Ansbach 2
Antalya 2
Totale 3.951
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Nome #
Developmental dyslexia and its complex genetic puzzle 316
Type i interferon-mediated autoinflammation due to DNase II deficiency 293
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. 290
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 258
A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome 185
Evidence of Inbreeding Depression on Human Height 174
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 157
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability 151
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12 151
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation 138
The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles 136
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature 134
Genetic analysis of Italian patients with congenital tufting enteropathy 130
null 124
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL 124
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature 118
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss 117
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 114
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature 109
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations 107
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss 102
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome 99
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism 98
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 92
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies 88
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma 83
Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis 80
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 72
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge 65
Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report 62
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet 62
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 57
Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies 56
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry 55
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 54
Could the MED13 mutations manifest as a Kabuki-like syndrome? 53
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 53
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 53
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes 52
Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis 50
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates 49
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease 48
Prenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomes 48
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability. 46
When salt is needed to grow: Questions 44
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss 44
An unusual diagnosis for an usual test 43
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 43
A Child With Self-Improving Hypotonia: Look at the Skin! 43
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss 40
Infant with a big head and 'crossed' polysyndactyly 38
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition 37
When salt is needed to grow: Answers 37
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study 36
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? 36
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures 33
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders 33
Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency 33
TBC1D24 and non-syndromic autosomal dominant hearing loss: the identification of an additional Italo-American family carrying the p.(S178L) mutation 31
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature 29
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature 28
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus 24
Totale 5.555
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Categoria #
all - tutte 18.864
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 18.864
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020879 0 43 46 121 65 159 112 87 89 47 73 37
2020/2021750 50 48 89 73 75 82 66 51 52 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
2024/202528 23 5 0 0 0 0 0 0 0 0 0 0
Totale 5.555