IRIS
SERPIERI, VALENTINA
 Distribuzione geografica
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Continente #
NA - Nord America 182
EU - Europa 129
AS - Asia 23
Totale 334
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Nazione #
US - Stati Uniti d'America 181
IE - Irlanda 78
IT - Italia 24
CN - Cina 20
FI - Finlandia 14
DE - Germania 7
ES - Italia 3
IN - India 2
UA - Ucraina 2
BE - Belgio 1
CA - Canada 1
MY - Malesia 1
Totale 334
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Città #
Dublin 78
Chandler 61
Ashburn 21
Shanghai 18
Helsinki 14
Pavia 9
Princeton 8
Lawrence 7
Medford 6
Milan 5
Cagliari 4
Los Angeles 4
New York 4
Wilmington 4
Washington 3
Beijing 2
Berlin 2
Des Moines 2
Gandía 2
Norwalk 2
Pescara 2
Pune 2
Seattle 2
Ann Arbor 1
Auburn 1
Avigliana 1
Brussels 1
Fairfield 1
Toronto 1
Verolanuova 1
Vyshhorod 1
Totale 270
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Nome #
Genetic and functional characterization of cerebellar and brainstem congenital defects 43
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 42
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 35
A novel IRF2BPL truncating variant is associated with endolysosomal storage 32
Age and sex prevalence estimate of Joubert syndrome in Italy 31
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment 31
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene 28
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 22
Genotype-phenotype correlates in Joubert syndrome: A review 19
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders 18
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum 16
Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants 16
Phenotypic definition and genotype-phenotype correlates in pmpca-related disease 14
Totale 347
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Categoria #
all - tutte 1.692
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 1.692
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203 0 0 0 0 0 0 0 2 0 0 0 1
2020/202114 1 0 0 0 0 3 0 1 0 0 0 9
2021/202232 0 0 1 0 0 0 0 3 2 0 5 21
2022/2023200 20 15 2 10 17 22 0 8 91 1 7 7
2023/202498 14 20 4 2 9 19 20 6 0 4 0 0
Totale 347