IRIS
BRUSCO, ALFREDO
 Distribuzione geografica
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Continente #
NA - Nord America 255
EU - Europa 143
AS - Asia 39
OC - Oceania 2
Totale 439
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Nazione #
US - Stati Uniti d'America 251
IE - Irlanda 112
CN - Cina 25
FI - Finlandia 13
DE - Germania 6
SE - Svezia 5
SG - Singapore 5
JP - Giappone 4
CA - Canada 3
IR - Iran 3
IT - Italia 3
AU - Australia 2
BE - Belgio 2
MY - Malesia 2
MX - Messico 1
NL - Olanda 1
RU - Federazione Russa 1
Totale 439
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Città #
Dublin 112
Chandler 66
Ashburn 24
Boardman 23
Lawrence 19
Princeton 19
Shanghai 14
Medford 13
Helsinki 11
Tokyo 4
Beijing 3
Singapore 3
Wilmington 3
Andover 2
Brussels 2
Changsha 2
Chicago 2
Hangzhou 2
Jacksonville 2
Melbourne 2
Nanjing 2
New York 2
Sacramento 2
Zanjan 2
Aguascalientes 1
Bologna 1
Borås 1
Frankfurt am Main 1
Hebei 1
Henderson 1
Kish 1
Montréal 1
Nanchang 1
Norwalk 1
Oklahoma City 1
Pavia 1
Pisa 1
Rockville 1
San Francisco 1
Seattle 1
Toronto 1
Washington 1
Totale 354
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Nome #
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 43
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 37
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 35
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 34
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 33
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 29
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 29
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations 29
O056. Migraine as presenting symptom of SLC20A2gene mutations 28
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 26
Novel mutation of SLC20A2 in an Italian patient presenting with migraine 20
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 20
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 17
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH 16
Recessive gene disruptions in autism spectrum disorder 16
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 14
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 13
Strategie molecolari per la correzione di anomalie cromosomiche 11
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 11
Totale 461
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Categoria #
all - tutte 3.407
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 3.407
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20205 0 0 0 0 0 0 0 0 0 1 4 0
2020/20212 0 0 0 0 0 0 0 0 2 0 0 0
2021/202277 0 0 0 0 0 0 0 18 3 4 11 41
2022/2023255 37 15 4 5 17 14 0 18 138 2 3 2
2023/202478 12 11 2 2 4 24 8 2 0 2 3 8
2024/202530 5 21 0 1 0 3 0 0 0 0 0 0
Totale 461