VETRO, ANNALISA
 Distribuzione geografica
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Continente #
NA - Nord America 1.140
EU - Europa 813
AS - Asia 747
SA - Sud America 144
AF - Africa 32
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 1
Totale 2.882
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Nazione #
US - Stati Uniti d'America 1.119
RU - Federazione Russa 349
SG - Singapore 205
IT - Italia 197
CN - Cina 182
BR - Brasile 120
HK - Hong Kong 106
VN - Vietnam 99
IE - Irlanda 54
PL - Polonia 50
KR - Corea 49
BD - Bangladesh 46
FI - Finlandia 34
SE - Svezia 34
DE - Germania 32
FR - Francia 25
ZA - Sudafrica 12
CH - Svizzera 11
ID - Indonesia 11
IN - India 10
JO - Giordania 10
CA - Canada 9
GB - Regno Unito 9
IQ - Iraq 8
AR - Argentina 7
JP - Giappone 6
AU - Australia 5
CI - Costa d'Avorio 5
EC - Ecuador 5
PY - Paraguay 4
AT - Austria 3
CZ - Repubblica Ceca 3
KE - Kenya 3
MX - Messico 3
NG - Nigeria 3
TN - Tunisia 3
TR - Turchia 3
UA - Ucraina 3
BO - Bolivia 2
CO - Colombia 2
DZ - Algeria 2
ES - Italia 2
JM - Giamaica 2
MD - Moldavia 2
NL - Olanda 2
NP - Nepal 2
PA - Panama 2
SV - El Salvador 2
TH - Thailandia 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
AZ - Azerbaigian 1
BJ - Benin 1
BY - Bielorussia 1
CL - Cile 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
EG - Egitto 1
ET - Etiopia 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
UY - Uruguay 1
UZ - Uzbekistan 1
VE - Venezuela 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 2.882
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Città #
Santa Clara 382
Ashburn 158
Singapore 155
Hong Kong 98
Dublin 53
Fairfield 53
Seoul 49
Warsaw 49
Milan 47
Beijing 38
Hefei 37
Ho Chi Minh City 35
Helsinki 28
Moscow 28
Lawrence 24
Los Angeles 24
Cambridge 23
Altamura 22
Houston 21
Rome 20
Hanoi 19
San Jose 19
Wilmington 19
Woodbridge 19
Seattle 18
Buffalo 17
Council Bluffs 15
Florence 15
Lauterbourg 14
The Dalles 14
Princeton 13
Boston 12
Munich 12
Bern 11
Dallas 11
Shanghai 9
Ann Arbor 8
Jakarta 8
Chandler 7
Chicago 7
Frankfurt am Main 7
Johannesburg 7
Paris 7
San Diego 7
São Paulo 7
Kent 6
New York 6
Tokyo 6
Abidjan 5
Andover 5
Campi Bisenzio 5
Rio de Janeiro 5
Salt Lake City 5
Tianjin 5
Baghdad 4
Brasília 4
Camden 4
Dong Ket 4
Haiphong 4
Medford 4
Melbourne 4
Nuremberg 4
Tampa 4
Turin 4
Amman 3
Asunción 3
Bengaluru 3
Clifton 3
Da Nang 3
Hillsboro 3
Lappeenranta 3
Livorno 3
London 3
Montreal 3
Mumbai 3
Naples 3
Phủ Lý 3
Redondo Beach 3
San Giovanni in Persiceto 3
Turku 3
Ấp Tháp Mười 3
Abuja 2
Amsterdam 2
Bari 2
Bologna 2
Bremen 2
Brooklyn 2
Bắc Giang 2
Bắc Ninh 2
Campinas 2
Chennai 2
Chesapeake 2
Contagem 2
Durban 2
Elk Grove Village 2
Figino 2
Horsham 2
Hải Dương 2
Indian Trail 2
Itajaí 2
Totale 1.823
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Nome #
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy 204
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations 194
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 188
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 185
SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 184
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up 181
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration 178
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectualdisability, microcephaly, hypoplasia of the corpus callosum, and epilepsy 171
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome 165
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies 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)) 151
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome 146
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25new individuals and review of the literature 145
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 136
Polygenic burden in focal and generalized epilepsies 134
GM3 synthase deficiency in non-Amish patients 127
Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome 122
Mutations in the exocyst component EXOC2 cause severe defects in human brain development 58
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities 24
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders 20
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish 16
Monogenic variants in dystonia: an exome-wide sequencing study 11
Molecular and Phenotypic Characterization of the RORB-Related Disorder 8
Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length 4
Totale 2.910
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Categoria #
all - tutte 9.729
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 9.729
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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
2026/202731 31 0 0 0 0 0 0 0 0 0 0 0
Totale 2.910