IRIS
BRUSCO, ALFREDO
 Distribuzione geografica
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Continente #
NA - Nord America 735
AS - Asia 369
EU - Europa 324
SA - Sud America 63
Continente sconosciuto - Info sul continente non disponibili 23
AF - Africa 18
OC - Oceania 2
Totale 1.534
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Nazione #
US - Stati Uniti d'America 706
CN - Cina 114
IE - Irlanda 112
SG - Singapore 93
RU - Federazione Russa 74
BR - Brasile 50
HK - Hong Kong 50
VN - Vietnam 47
IT - Italia 33
DE - Germania 24
FR - Francia 22
CA - Canada 19
FI - Finlandia 19
GB - Regno Unito 15
IN - India 15
ZA - Sudafrica 11
JP - Giappone 10
BD - Bangladesh 9
MY - Malesia 6
SE - Svezia 6
AR - Argentina 5
BE - Belgio 3
IQ - Iraq 3
IR - Iran 3
JM - Giamaica 3
MX - Messico 3
UZ - Uzbekistan 3
AE - Emirati Arabi Uniti 2
AT - Austria 2
AU - Australia 2
CZ - Repubblica Ceca 2
EC - Ecuador 2
KZ - Kazakistan 2
MA - Marocco 2
NL - Olanda 2
PH - Filippine 2
PL - Polonia 2
TR - Turchia 2
AL - Albania 1
BA - Bosnia-Erzegovina 1
BO - Bolivia 1
BW - Botswana 1
CL - Cile 1
CO - Colombia 1
DZ - Algeria 1
EE - Estonia 1
ES - Italia 1
GR - Grecia 1
GT - Guatemala 1
HN - Honduras 1
ID - Indonesia 1
IL - Israele 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
VC - Saint Vincent e Grenadine 1
VE - Venezuela 1
Totale 1.511
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Città #
Dublin 112
San Jose 107
Ashburn 66
Chandler 66
Dallas 57
Hong Kong 50
Singapore 39
Beijing 37
Council Bluffs 36
Boardman 23
Princeton 20
Lawrence 19
Lauterbourg 18
Shanghai 14
Hanoi 13
Medford 13
New York 13
Helsinki 12
Munich 12
Ho Chi Minh City 10
Los Angeles 10
Tokyo 10
Buffalo 9
Redondo Beach 9
Johannesburg 8
Santa Clara 8
São Paulo 8
Changsha 5
Moscow 5
Orem 5
Rome 5
Seattle 5
Turku 5
Chicago 4
Guangzhou 4
Haiphong 4
Milan 4
Montreal 4
North Bergen 4
Atlanta 3
Belo Horizonte 3
Brooklyn 3
Columbus 3
Da Nang 3
Frankfurt am Main 3
Jacksonville 3
London 3
Manchester 3
Nanjing 3
New Delhi 3
Phoenix 3
Sacramento 3
Sahāranpur 3
San Francisco 3
Wilmington 3
Andover 2
Augusta 2
Brussels 2
Cariacica 2
Charlotte 2
Chennai 2
Denver 2
Genoa 2
Grand Rapids 2
Hangzhou 2
Houston 2
Melbourne 2
Naples 2
Newark 2
Raleigh 2
Rio de Janeiro 2
Santiago 2
Tashkent 2
The Dalles 2
Toronto 2
Vienna 2
Warsaw 2
Zanjan 2
Abakaliki 1
Agadir 1
Aguascalientes 1
Aktobe 1
Algiers 1
Almaty 1
Amarillo 1
Araruama 1
Ashgabat 1
Aurora 1
Autun 1
Avaré 1
Barro Preto 1
Bayamón 1
Beirut 1
Bengaluru 1
Bertinoro 1
Bhiwāni 1
Bishkek 1
Biên Hòa 1
Bloemfontein 1
Bologna 1
Totale 969
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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 108
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 107
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 103
Small supernumerary marker chromosomes: A legacy of trisomy rescue? 93
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 93
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 92
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations 90
Novel mutation of SLC20A2 in an Italian patient presenting with migraine 74
Strategie molecolari per la correzione di anomalie cromosomiche 73
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 73
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 72
Recessive gene disruptions in autism spectrum disorder 71
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells 67
O056. Migraine as presenting symptom of SLC20A2gene mutations 67
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH 65
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy 63
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 62
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 61
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 58
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis 42
Totale 1.534
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Categoria #
all - tutte 7.975
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 7.975
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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
2025/2026652 48 66 63 57 96 17 116 36 56 57 18 22
2026/2027185 9 64 29 77 6 0 0 0 0 0 0 0
Totale 1.534