IRIS
D'ABRUSCO, FULVIO
 Distribuzione geografica
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Continente #
EU - Europa 137
NA - Nord America 92
AS - Asia 25
Totale 254
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Nazione #
US - Stati Uniti d'America 90
IT - Italia 57
IE - Irlanda 45
CN - Cina 9
DE - Germania 9
BE - Belgio 8
IN - India 6
ES - Italia 5
FI - Finlandia 5
PH - Filippine 5
AT - Austria 3
BA - Bosnia-Erzegovina 3
CA - Canada 2
IL - Israele 2
MY - Malesia 2
HK - Hong Kong 1
LV - Lettonia 1
SE - Svezia 1
Totale 254
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Città #
Dublin 45
Chandler 32
Pavia 10
Brussels 8
Shanghai 8
Turin 7
Ashburn 6
Munich 6
Helsinki 5
Las Pinas 5
Cagliari 4
Gandía 4
Ponte San Pietro 4
Verolanuova 4
Innsbruck 3
Lawrence 3
Medford 3
Nilamel 3
Princeton 3
Seattle 3
Siena 3
Boston 2
Chieti 2
Lodi 2
Milan 2
Nagpur 2
New York 2
Rishon LeTsiyyon 2
Rome 2
Srebrenik 2
Vancouver 2
Varedo 2
Beijing 1
Bereguardo 1
Berlin 1
Bhubaneswar 1
Bologna 1
Central 1
Florence 1
Genoa 1
Liepāja 1
New Rochelle 1
Sacramento 1
San Francisco 1
Sarajevo 1
Totale 204
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Nome #
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 80
Exploring the non-coding regions of the genome: the contribution of cryptic splicing variants to the onset of Joubert syndrome 47
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 42
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing 27
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 22
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
Visual function in children with Joubert syndrome 5
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 4
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature 3
Expanding the natural history of CASK-related disorders to the prenatal period 1
Totale 265
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Categoria #
all - tutte 1.099
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 1.099
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/202223 0 0 0 0 0 0 0 3 3 1 4 12
2022/2023131 8 6 5 7 7 20 4 6 59 4 0 5
2023/2024111 14 16 4 8 10 9 23 9 0 5 13 0
Totale 265