VETRO, ANNALISA
 Distribuzione geografica
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Continente #
NA - Nord America 306
EU - Europa 220
AS - Asia 69
Totale 595
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Nazione #
US - Stati Uniti d'America 306
IE - Irlanda 52
IT - Italia 49
PL - Polonia 48
HK - Hong Kong 43
SE - Svezia 33
RU - Federazione Russa 19
CN - Cina 14
CH - Svizzera 11
JO - Giordania 7
DE - Germania 6
VN - Vietnam 4
GB - Regno Unito 1
SG - Singapore 1
UA - Ucraina 1
Totale 595
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Città #
Fairfield 53
Dublin 52
Warsaw 48
Hong Kong 35
Ashburn 24
Lawrence 24
Cambridge 23
Altamura 22
Moscow 19
Houston 18
Seattle 18
Woodbridge 18
Wilmington 17
Princeton 13
Florence 12
Beijing 11
Bern 11
Boston 11
Ann Arbor 8
Chandler 7
San Diego 7
Andover 5
Campi Bisenzio 5
Dong Ket 4
Medford 4
Hillsboro 3
Livorno 3
San Giovanni in Persiceto 3
Bremen 2
Buffalo 2
Orbassano 2
Columbus 1
Cosenza 1
Falls Church 1
Fuzhou 1
London 1
Los Angeles 1
Norwalk 1
Rome 1
San Mateo 1
Singapore 1
Washington 1
Totale 495
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Nome #
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations 78
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 72
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 72
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy 66
SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type 44
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectualdisability, microcephaly, hypoplasia of the corpus callosum, and epilepsy 37
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25new individuals and review of the literature 35
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17458 subjects 35
Polygenic burden in focal and generalized epilepsies 29
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies 27
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)) 27
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome 25
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome 20
GM3 synthase deficiency in non-Amish patients 18
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up 16
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration 9
Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome 4
Totale 614
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Categoria #
all - tutte 3.443
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 3.443
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201912 0 0 0 0 0 0 0 0 0 2 4 6
2019/202087 2 8 1 5 11 8 8 8 8 9 19 0
2020/2021115 18 8 18 12 4 4 4 7 9 19 8 4
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
2023/2024127 3 14 19 9 6 4 7 45 5 15 0 0
Totale 614