D'ABRUSCO, FULVIO
 Distribuzione geografica
Continente #
EU - Europa 404
NA - Nord America 323
AS - Asia 277
SA - Sud America 59
AF - Africa 8
Totale 1.071
Nazione #
US - Stati Uniti d'America 300
IT - Italia 151
CN - Cina 77
SG - Singapore 71
RU - Federazione Russa 68
BR - Brasile 49
HK - Hong Kong 47
IE - Irlanda 45
DE - Germania 42
VN - Vietnam 38
FI - Finlandia 21
GB - Regno Unito 15
CA - Canada 13
BE - Belgio 11
IN - India 11
ES - Italia 10
NL - Olanda 10
AT - Austria 8
FR - Francia 8
JP - Giappone 8
MX - Messico 7
PH - Filippine 5
ZA - Sudafrica 5
BD - Bangladesh 4
IR - Iran 4
BA - Bosnia-Erzegovina 3
LV - Lettonia 3
PL - Polonia 3
AR - Argentina 2
CL - Cile 2
CO - Colombia 2
EC - Ecuador 2
IL - Israele 2
MA - Marocco 2
MY - Malesia 2
PE - Perù 2
SE - Svezia 2
TR - Turchia 2
UZ - Uzbekistan 2
AM - Armenia 1
AZ - Azerbaigian 1
CH - Svizzera 1
GD - Grenada 1
HN - Honduras 1
IQ - Iraq 1
KE - Kenya 1
LT - Lituania 1
PK - Pakistan 1
RO - Romania 1
UA - Ucraina 1
VC - Saint Vincent e Grenadine 1
Totale 1.071
Città #
Hong Kong 46
Dublin 45
Chandler 32
Dallas 31
Ashburn 27
Beijing 27
Singapore 27
Pavia 23
Boardman 22
Los Angeles 22
Munich 15
Florence 14
Milan 13
New York 13
Turin 13
Turku 13
Falkenstein 12
Shanghai 12
Brussels 11
Moscow 10
Redondo Beach 10
Hanoi 9
Ho Chi Minh City 9
Helsinki 8
Nuremberg 8
Tokyo 8
Orem 7
São Paulo 7
Buffalo 6
Montreal 6
Naples 6
Novara 6
Johannesburg 5
Las Pinas 5
The Dalles 5
Cagliari 4
Gandía 4
Manchester 4
Mexico City 4
Ponte San Pietro 4
Seattle 4
Verolanuova 4
Boston 3
Brasília 3
Innsbruck 3
Lawrence 3
Medford 3
Nilamel 3
Paris 3
Princeton 3
Rio de Janeiro 3
Rome 3
Siena 3
Toronto 3
Warsaw 3
Albignasego 2
Amsterdam 2
Ankara 2
Bologna 2
Bắc Giang 2
Chicago 2
Chieti 2
Da Nang 2
Denver 2
Dhaka 2
Haiphong 2
Hyderabad 2
Hải Dương 2
Leiden 2
Lodi 2
Macerata 2
Monfalcone 2
Nagpur 2
Parma 2
Phoenix 2
Poplar 2
Qingdao 2
Quảng Nam Province 2
Riga 2
Rishon LeTsiyyon 2
San Francisco 2
Santa Clara 2
Srebrenik 2
Sumaré 2
Tashkent 2
Thái Nguyên 2
Trieste 2
Vancouver 2
Varedo 2
Vicenza 2
Xi'an 2
Zhengzhou 2
Alagoinhas 1
Araci 1
Atlanta 1
Bahacheve 1
Baku 1
Barra do Choça 1
Bereguardo 1
Berlin 1
Totale 682
Nome #
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 131
Exploring the non-coding regions of the genome: the contribution of cryptic splicing variants to the onset of Joubert syndrome 130
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 93
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing 71
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 69
Visual function in children with Joubert syndrome 65
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders 64
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 61
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 60
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum 59
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 56
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature 54
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study 47
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates 43
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 42
Expanding the natural history of CASK-related disorders to the prenatal period 42
Totale 1.087
Categoria #
all - tutte 4.188
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 4.188


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
2024/2025353 10 16 2 7 3 15 16 56 96 17 42 73
2025/2026440 70 44 86 121 98 21 0 0 0 0 0 0
Totale 1.087