D'ABRUSCO, FULVIO
 Distribuzione geografica
Continente #
EU - Europa 171
NA - Nord America 118
AS - Asia 48
Totale 337
Nazione #
US - Stati Uniti d'America 114
IT - Italia 80
IE - Irlanda 45
CN - Cina 20
DE - Germania 11
BE - Belgio 8
FI - Finlandia 8
SG - Singapore 7
IN - India 6
ES - Italia 5
PH - Filippine 5
CA - Canada 4
IR - Iran 4
AT - Austria 3
BA - Bosnia-Erzegovina 3
FR - Francia 3
HK - Hong Kong 2
IL - Israele 2
MY - Malesia 2
NL - Olanda 2
GB - Regno Unito 1
LV - Lettonia 1
SE - Svezia 1
Totale 337
Città #
Dublin 45
Chandler 32
Boardman 21
Pavia 12
Shanghai 12
Turin 11
Brussels 8
Helsinki 8
Ashburn 6
Florence 6
Munich 6
Singapore 6
Las Pinas 5
Cagliari 4
Gandía 4
Milan 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
Falkenstein 2
Leiden 2
Lodi 2
Nagpur 2
Naples 2
New York 2
Parma 2
Rishon LeTsiyyon 2
Rome 2
Srebrenik 2
Toronto 2
Vancouver 2
Varedo 2
Vicenza 2
Beijing 1
Bereguardo 1
Berlin 1
Bhubaneswar 1
Bologna 1
Central 1
Changsha 1
Chongqing 1
Genoa 1
Hong Kong 1
Jiaxing 1
Liepāja 1
London 1
New Rochelle 1
Purcellville 1
Qingdao 1
Sacramento 1
San Francisco 1
Sarajevo 1
Wuchang 1
Xi'an 1
Zhengzhou 1
Totale 273
Nome #
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 86
Exploring the non-coding regions of the genome: the contribution of cryptic splicing variants to the onset of Joubert syndrome 73
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 44
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing 31
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 24
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders 23
Visual function in children with Joubert syndrome 20
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum 18
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 10
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature 10
Expanding the natural history of CASK-related disorders to the prenatal period 5
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study 3
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 3
Totale 350
Categoria #
all - tutte 1.958
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 1.958


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
2023/2024140 14 16 4 8 10 9 23 9 0 5 20 22
2024/202556 10 16 2 7 3 15 3 0 0 0 0 0
Totale 350