IRIS
D'ARRIGO, STEFANO
 Distribuzione geografica
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Continente #
NA - Nord America 167
EU - Europa 100
AS - Asia 30
Totale 297
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Nazione #
US - Stati Uniti d'America 167
IE - Irlanda 56
CN - Cina 27
IT - Italia 18
FI - Finlandia 11
DE - Germania 10
GB - Regno Unito 3
IN - India 3
MD - Moldavia 1
SE - Svezia 1
Totale 297
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Città #
Chandler 56
Dublin 56
New York 14
Ashburn 13
Helsinki 9
Wilmington 9
Beijing 8
Lawrence 7
Medford 7
Princeton 7
Falls Church 6
Nanjing 6
Turin 6
Brescia 4
Shanghai 4
Jacksonville 3
Los Angeles 3
Nanchang 3
Seattle 3
Shenyang 3
Berlin 2
Milan 2
Pavia 2
Pune 2
Washington 2
Ann Arbor 1
Changsha 1
Chisinau 1
Fairfield 1
Hebei 1
Totale 242
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Nome #
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 50
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 50
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 45
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes 44
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 36
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 35
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications 33
Neurologic, Neuropsychologic, and Neuroradiologic Features ofEBF3-Related Syndrome 8
Virtual hospital and artificial intelligence: a first step towards the application of an innovative health system for the care of rare cerebrovascular diseases 7
Totale 308
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Categoria #
all - tutte 1.399
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 1.399
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202022 6 10 0 0 0 0 0 0 0 2 4 0
2020/202113 0 0 0 2 1 1 0 3 5 0 1 0
2021/202235 0 0 0 0 3 3 1 2 1 3 4 18
2022/2023143 15 13 4 9 15 10 0 6 64 1 3 3
2023/202488 7 14 4 10 8 26 4 9 2 4 0 0
Totale 308