IRIS
D'ABRUSCO, FULVIO
 Distribuzione geografica
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Continente #
NA - Nord America 472
EU - Europa 464
AS - Asia 402
SA - Sud America 80
AF - Africa 24
OC - Oceania 1
Totale 1.443
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Nazione #
US - Stati Uniti d'America 443
IT - Italia 170
SG - Singapore 107
CN - Cina 94
VN - Vietnam 76
RU - Federazione Russa 69
BR - Brasile 56
HK - Hong Kong 55
DE - Germania 45
IE - Irlanda 45
FR - Francia 23
FI - Finlandia 21
GB - Regno Unito 18
IN - India 18
ZA - Sudafrica 15
CA - Canada 14
ES - Italia 12
BE - Belgio 11
NL - Olanda 11
AT - Austria 9
JP - Giappone 9
EC - Ecuador 7
MX - Messico 7
AR - Argentina 6
BD - Bangladesh 6
CO - Colombia 5
PH - Filippine 5
IQ - Iraq 4
IR - Iran 4
PK - Pakistan 4
PL - Polonia 4
SE - Svezia 4
UA - Ucraina 4
BA - Bosnia-Erzegovina 3
CH - Svizzera 3
ID - Indonesia 3
IL - Israele 3
LT - Lituania 3
LV - Lettonia 3
MA - Marocco 3
MY - Malesia 3
TN - Tunisia 3
UZ - Uzbekistan 3
CL - Cile 2
HN - Honduras 2
PE - Perù 2
TR - Turchia 2
AM - Armenia 1
AU - Australia 1
AZ - Azerbaigian 1
CR - Costa Rica 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
ET - Etiopia 1
GD - Grenada 1
GT - Guatemala 1
HU - Ungheria 1
JM - Giamaica 1
KE - Kenya 1
KR - Corea 1
KZ - Kazakistan 1
PT - Portogallo 1
PY - Paraguay 1
RO - Romania 1
RS - Serbia 1
SA - Arabia Saudita 1
SY - Repubblica araba siriana 1
VC - Saint Vincent e Grenadine 1
VE - Venezuela 1
Totale 1.443
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Città #
San Jose 75
Hong Kong 50
Dublin 45
Singapore 41
Ashburn 37
Chandler 32
Dallas 32
Beijing 27
Los Angeles 27
Ho Chi Minh City 25
Boardman 24
Pavia 24
Milan 22
Hanoi 19
Council Bluffs 17
New York 17
Florence 16
Munich 15
Lauterbourg 14
Johannesburg 13
Shanghai 13
Turin 13
Turku 13
Falkenstein 12
Brussels 11
Moscow 10
Redondo Beach 10
Orem 9
São Paulo 9
Helsinki 8
Nuremberg 8
Tokyo 8
Buffalo 7
Montreal 6
Naples 6
Novara 6
Las Pinas 5
Rome 5
The Dalles 5
Cagliari 4
Da Nang 4
Gandía 4
Haiphong 4
Manchester 4
Medellín 4
Mexico City 4
Ponte San Pietro 4
Rio de Janeiro 4
Santa Clara 4
Seattle 4
Toronto 4
Verolanuova 4
Warsaw 4
Boston 3
Brasília 3
Guayaquil 3
Innsbruck 3
Kyiv 3
Lawrence 3
Medford 3
Nilamel 3
Paris 3
Princeton 3
Siena 3
Stockholm 3
Tashkent 3
Albignasego 2
Amsterdam 2
Ankara 2
Baghdad 2
Biên Hòa 2
Bologna 2
Bắc Giang 2
Chicago 2
Chieti 2
City of London 2
Denver 2
Dhaka 2
Frankfurt am Main 2
Hyderabad 2
Hải Dương 2
Leiden 2
Lodi 2
London 2
Macerata 2
Madrid 2
Mohali 2
Monfalcone 2
Mumbai 2
Nagpur 2
Parma 2
Phoenix 2
Poplar 2
Qingdao 2
Quảng Nam Province 2
Riga 2
Rishon LeTsiyyon 2
San Francisco 2
Srebrenik 2
Sumaré 2
Totale 899
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Nome #
Exploring the non-coding regions of the genome: the contribution of cryptic splicing variants to the onset of Joubert syndrome 166
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 161
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 110
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 93
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders 93
Visual function in children with Joubert syndrome 87
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing 85
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study 84
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum 79
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 78
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 78
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 77
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 75
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature 70
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates 59
Expanding the natural history of CASK-related disorders to the prenatal period 59
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement 6
Totale 1.460
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Categoria #
all - tutte 5.089
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 5.089
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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
2023/2024140 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
2025/2026813 70 44 86 121 98 32 122 28 83 54 60 15
Totale 1.460