IRIS
BRUSCO, ALFREDO
 Distribuzione geografica
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Continente #
NA - Nord America 596
AS - Asia 362
EU - Europa 288
SA - Sud America 58
AF - Africa 18
OC - Oceania 2
Totale 1.324
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Nazione #
US - Stati Uniti d'America 578
CN - Cina 114
IE - Irlanda 112
SG - Singapore 91
RU - Federazione Russa 72
HK - Hong Kong 50
BR - Brasile 48
VN - Vietnam 47
DE - Germania 22
FR - Francia 21
FI - Finlandia 19
IN - India 15
CA - Canada 13
GB - Regno Unito 12
ZA - Sudafrica 11
JP - Giappone 10
IT - Italia 8
SE - Svezia 6
BD - Bangladesh 5
MY - Malesia 5
AR - Argentina 4
IQ - Iraq 3
IR - Iran 3
MX - Messico 3
UZ - Uzbekistan 3
AE - Emirati Arabi Uniti 2
AT - Austria 2
AU - Australia 2
BE - Belgio 2
CZ - Repubblica Ceca 2
KZ - Kazakistan 2
MA - Marocco 2
NL - Olanda 2
PH - Filippine 2
PL - Polonia 2
TR - Turchia 2
AL - Albania 1
BO - Bolivia 1
BW - Botswana 1
CO - Colombia 1
DZ - Algeria 1
EC - Ecuador 1
ES - Italia 1
GR - Grecia 1
ID - Indonesia 1
IL - Israele 1
JM - Giamaica 1
KG - Kirghizistan 1
LB - Libano 1
LT - Lituania 1
MM - Myanmar 1
NG - Nigeria 1
NP - Nepal 1
PE - Perù 1
PK - Pakistan 1
PR - Porto Rico 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
TM - Turkmenistan 1
TN - Tunisia 1
UA - Ucraina 1
UY - Uruguay 1
VE - Venezuela 1
Totale 1.324
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Città #
Dublin 112
San Jose 97
Chandler 66
Ashburn 62
Dallas 56
Hong Kong 50
Singapore 38
Beijing 37
Boardman 23
Lawrence 19
Princeton 19
Lauterbourg 18
Shanghai 14
Hanoi 13
Medford 13
Helsinki 12
Munich 12
New York 11
Ho Chi Minh City 10
Tokyo 10
Los Angeles 9
Redondo Beach 9
Buffalo 8
Johannesburg 8
São Paulo 7
Changsha 5
Moscow 5
Orem 5
Santa Clara 5
Turku 5
Chicago 4
Guangzhou 4
Haiphong 4
Montreal 4
Seattle 4
Atlanta 3
Belo Horizonte 3
Da Nang 3
Frankfurt am Main 3
London 3
Manchester 3
Nanjing 3
New Delhi 3
Phoenix 3
Sahāranpur 3
Wilmington 3
Andover 2
Augusta 2
Brooklyn 2
Brussels 2
Cariacica 2
Charlotte 2
Chennai 2
Denver 2
Grand Rapids 2
Hangzhou 2
Houston 2
Jacksonville 2
Melbourne 2
Raleigh 2
Rio de Janeiro 2
Sacramento 2
San Francisco 2
Tashkent 2
The Dalles 2
Vienna 2
Warsaw 2
Zanjan 2
Abakaliki 1
Agadir 1
Aguascalientes 1
Aktobe 1
Algiers 1
Almaty 1
Araruama 1
Ashgabat 1
Autun 1
Avaré 1
Barro Preto 1
Bayamón 1
Beirut 1
Bengaluru 1
Bhiwāni 1
Bishkek 1
Biên Hòa 1
Bloemfontein 1
Bologna 1
Borås 1
Brasília 1
Bratislava 1
Bremen 1
Brno 1
Bình Dương 1
Calgary 1
Can Tho 1
Cao Lanh 1
Chapadão do Sul 1
Chongqing 1
Citrus Heights 1
Cleveland 1
Totale 887
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Nome #
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 99
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 94
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 92
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 86
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 85
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 85
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations 85
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 68
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 68
Novel mutation of SLC20A2 in an Italian patient presenting with migraine 64
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 62
O056. Migraine as presenting symptom of SLC20A2gene mutations 61
Recessive gene disruptions in autism spectrum disorder 59
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH 56
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 56
Strategie molecolari per la correzione di anomalie cromosomiche 54
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 51
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 50
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 37
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 35
Totale 1.347
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Categoria #
all - tutte 6.909
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 6.909
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2024/2025266 5 21 0 1 0 3 3 14 99 6 32 82
2025/2026650 48 66 63 57 96 17 116 36 56 57 18 20
Totale 1.347