IRIS
D'ABRUSCO, FULVIO
 Distribuzione geografica
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Continente #
NA - Nord America 567
EU - Europa 526
AS - Asia 417
SA - Sud America 84
AF - Africa 24
Continente sconosciuto - Info sul continente non disponibili 17
OC - Oceania 1
Totale 1.636
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Nazione #
US - Stati Uniti d'America 534
IT - Italia 232
SG - Singapore 108
CN - Cina 96
VN - Vietnam 76
RU - Federazione Russa 69
BR - Brasile 58
HK - Hong Kong 55
DE - Germania 45
IE - Irlanda 45
FR - Francia 23
FI - Finlandia 21
GB - Regno Unito 18
IN - India 18
CA - Canada 17
ZA - Sudafrica 15
BD - Bangladesh 14
ES - Italia 12
BE - Belgio 11
NL - Olanda 11
AT - Austria 9
JP - Giappone 9
AR - Argentina 7
EC - Ecuador 7
MX - Messico 7
CO - Colombia 5
PH - Filippine 5
PK - Pakistan 5
IQ - Iraq 4
IR - Iran 4
MY - Malesia 4
PL - Polonia 4
SE - Svezia 4
UA - Ucraina 4
BA - Bosnia-Erzegovina 3
CH - Svizzera 3
ID - Indonesia 3
IL - Israele 3
KR - Corea 3
LT - Lituania 3
LV - Lettonia 3
MA - Marocco 3
TN - Tunisia 3
UZ - Uzbekistan 3
CL - Cile 2
HN - Honduras 2
JM - Giamaica 2
PE - Perù 2
TR - Turchia 2
VE - Venezuela 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
KE - Kenya 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
Totale 1.619
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Città #
San Jose 84
Hong Kong 50
Dublin 45
Ashburn 42
Singapore 42
Council Bluffs 41
Dallas 33
Chandler 32
Milan 31
Los Angeles 28
Pavia 28
Beijing 27
Ho Chi Minh City 25
Boardman 24
Hanoi 19
New York 19
Florence 18
Turin 16
Munich 15
Lauterbourg 14
Johannesburg 13
Shanghai 13
Turku 13
Falkenstein 12
Brussels 11
Figino 11
Rome 11
Santa Clara 11
Moscow 10
Orem 10
Redondo Beach 10
São Paulo 9
Helsinki 8
Nuremberg 8
Tokyo 8
Buffalo 7
Columbus 7
Naples 7
Montreal 6
Novara 6
Seattle 6
The Dalles 6
Las Pinas 5
Toronto 5
Bologna 4
Brasília 4
Cagliari 4
Da Nang 4
Gandía 4
Haiphong 4
Manchester 4
Medellín 4
Mexico City 4
Ponte San Pietro 4
Rio de Janeiro 4
Verolanuova 4
Warsaw 4
Boston 3
Chicago 3
Dhaka 3
Guayaquil 3
Innsbruck 3
Kyiv 3
Lawrence 3
Medford 3
Nilamel 3
Paris 3
Phoenix 3
Princeton 3
Seoul 3
Siena 3
Stockholm 3
Tashkent 3
Albignasego 2
Amsterdam 2
Ankara 2
Baghdad 2
Belém 2
Biên Hòa 2
Brescia 2
Brooklyn 2
Bắc Giang 2
Catania 2
Chieti 2
City of London 2
Denver 2
Escondido 2
Fort Worth 2
Frankfurt am Main 2
Hyderabad 2
Hải Dương 2
Leiden 2
Lodi 2
London 2
Macerata 2
Madrid 2
Miami 2
Mohali 2
Monfalcone 2
Mumbai 2
Totale 1.000
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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 184
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 165
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 141
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 112
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 99
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders 97
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study 93
Visual function in children with Joubert syndrome 90
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing 87
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 87
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 86
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum 84
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 83
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature 75
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates 71
Expanding the natural history of CASK-related disorders to the prenatal period 64
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement 18
Totale 1.636
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Categoria #
all - tutte 5.853
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 5.853
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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
2025/2026821 70 44 86 121 98 32 122 28 83 54 60 23
2026/2027168 11 114 39 4 0 0 0 0 0 0 0 0
Totale 1.636