IRIS
BRUSCO, ALFREDO
 Distribuzione geografica
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Continente #
NA - Nord America 235
EU - Europa 141
AS - Asia 34
OC - Oceania 2
Totale 412
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Nazione #
US - Stati Uniti d'America 232
IE - Irlanda 112
CN - Cina 25
FI - Finlandia 12
DE - Germania 5
SE - Svezia 5
JP - Giappone 4
IR - Iran 3
IT - Italia 3
AU - Australia 2
BE - Belgio 2
CA - Canada 2
MY - Malesia 2
MX - Messico 1
NL - Olanda 1
RU - Federazione Russa 1
Totale 412
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Città #
Dublin 112
Chandler 66
Ashburn 24
Lawrence 19
Princeton 19
Shanghai 14
Medford 13
Helsinki 10
Boardman 4
Tokyo 4
Beijing 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
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
Washington 1
Totale 329
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Nome #
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 41
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 34
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 33
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 33
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 32
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 27
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 27
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations 27
O056. Migraine as presenting symptom of SLC20A2gene mutations 27
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 25
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 19
Novel mutation of SLC20A2 in an Italian patient presenting with migraine 18
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 16
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH 15
Recessive gene disruptions in autism spectrum disorder 15
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 13
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 12
Strategie molecolari per la correzione di anomalie cromosomiche 10
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 10
Totale 434
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Categoria #
all - tutte 2.869
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 2.869
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202013 4 4 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
2024/20253 3 0 0 0 0 0 0 0 0 0 0 0
Totale 434