VETRO, ANNALISA
 Distribuzione geografica
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Continente #
NA - Nord America 1.323
EU - Europa 842
AS - Asia 759
SA - Sud America 148
AF - Africa 33
Continente sconosciuto - Info sul continente non disponibili 30
OC - Oceania 6
Totale 3.141
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Nazione #
US - Stati Uniti d'America 1.289
RU - Federazione Russa 349
IT - Italia 224
SG - Singapore 206
CN - Cina 184
BR - Brasile 120
HK - Hong Kong 107
VN - Vietnam 101
IE - Irlanda 54
PL - Polonia 50
KR - Corea 49
BD - Bangladesh 47
FI - Finlandia 34
SE - Svezia 34
DE - Germania 32
FR - Francia 25
CA - Canada 18
ID - Indonesia 12
ZA - Sudafrica 12
CH - Svizzera 11
GB - Regno Unito 10
IN - India 10
JO - Giordania 10
IQ - Iraq 8
AR - Argentina 7
EC - Ecuador 7
JP - Giappone 7
AU - Australia 6
CI - Costa d'Avorio 5
AT - Austria 4
CO - Colombia 4
MX - Messico 4
PY - Paraguay 4
CZ - Repubblica Ceca 3
KE - Kenya 3
NG - Nigeria 3
TH - Thailandia 3
TN - Tunisia 3
TR - Turchia 3
UA - Ucraina 3
BO - Bolivia 2
CR - Costa Rica 2
DZ - Algeria 2
ES - Italia 2
JM - Giamaica 2
MD - Moldavia 2
MY - Malesia 2
NL - Olanda 2
NP - Nepal 2
PA - Panama 2
SV - El Salvador 2
AE - Emirati Arabi Uniti 1
AI - Anguilla 1
AM - Armenia 1
AZ - Azerbaigian 1
BJ - Benin 1
BQ - ???statistics.table.value.countryCode.BQ??? 1
BY - Bielorussia 1
CL - Cile 1
DO - Repubblica Dominicana 1
EG - Egitto 1
ET - Etiopia 1
HN - Honduras 1
HU - Ungheria 1
IL - Israele 1
IR - Iran 1
LT - Lituania 1
MA - Marocco 1
NI - Nicaragua 1
PE - Perù 1
PH - Filippine 1
QA - Qatar 1
SC - Seychelles 1
UY - Uruguay 1
UZ - Uzbekistan 1
VE - Venezuela 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 3.113
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Città #
Santa Clara 384
Ashburn 182
Singapore 155
Hong Kong 98
Dublin 53
Fairfield 53
Milan 49
Seoul 49
Warsaw 49
Beijing 39
San Jose 38
Hefei 37
Council Bluffs 35
Ho Chi Minh City 35
Helsinki 28
Los Angeles 28
Moscow 28
Lawrence 24
Cambridge 23
Altamura 22
Rome 22
Houston 21
Hanoi 20
Woodbridge 20
Florence 19
Wilmington 19
Buffalo 18
Seattle 18
St Louis 18
Dallas 14
Lauterbourg 14
The Dalles 14
Princeton 13
Boston 12
Munich 12
Bern 11
New York 11
Chicago 9
Shanghai 9
Ann Arbor 8
Jakarta 8
Phoenix 8
Chandler 7
Frankfurt am Main 7
Johannesburg 7
Paris 7
San Diego 7
São Paulo 7
Tokyo 7
Kent 6
Montreal 6
Salt Lake City 6
Abidjan 5
Andover 5
Campi Bisenzio 5
Denver 5
Melbourne 5
Naples 5
Rio de Janeiro 5
San Francisco 5
Tampa 5
Tianjin 5
Atlanta 4
Baghdad 4
Brasília 4
Brooklyn 4
Camden 4
Dong Ket 4
Haiphong 4
London 4
Medford 4
Nuremberg 4
Toronto 4
Turin 4
Amman 3
Asunción 3
Bengaluru 3
Clifton 3
Da Nang 3
Figino 3
Hillsboro 3
Ibarra 3
Lappeenranta 3
Livorno 3
Mumbai 3
Phủ Lý 3
Redondo Beach 3
San Giovanni in Persiceto 3
Turku 3
Vellezzo Bellini 3
Ấp Tháp Mười 3
Abuja 2
Amsterdam 2
Bari 2
Bologna 2
Bremen 2
Bắc Giang 2
Bắc Ninh 2
Cagliari 2
Campinas 2
Totale 1.961
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Nome #
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up 245
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy 210
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations 199
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 191
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 190
SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 190
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration 185
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectualdisability, microcephaly, hypoplasia of the corpus callosum, and epilepsy 181
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome 172
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies 164
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome 158
Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)) 158
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25new individuals and review of the literature 150
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 143
Polygenic burden in focal and generalized epilepsies 142
GM3 synthase deficiency in non-Amish patients 132
Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome 127
Mutations in the exocyst component EXOC2 cause severe defects in human brain development 68
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities 30
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders 28
Monogenic variants in dystonia: an exome-wide sequencing study 22
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish 21
Molecular and Phenotypic Characterization of the RORB-Related Disorder 20
Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length 15
Totale 3.141
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Categoria #
all - tutte 10.631
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 10.631
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/202273 0 0 6 2 3 5 1 10 12 4 7 23
2022/2023193 21 48 12 6 0 28 33 6 16 1 9 13
2023/2024141 3 14 19 9 6 4 7 45 5 15 6 8
2024/20251.025 42 106 60 132 289 166 17 56 29 29 54 45
2025/20261.226 132 127 115 162 120 35 96 63 64 92 27 193
2026/2027262 109 45 108 0 0 0 0 0 0 0 0 0
Totale 3.141