IRIS
D'ABRUSCO, FULVIO
 Distribuzione geografica
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Continente #
EU - Europa 460
NA - Nord America 416
AS - Asia 386
SA - Sud America 80
AF - Africa 23
OC - Oceania 1
Totale 1.366
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Nazione #
US - Stati Uniti d'America 390
IT - Italia 167
SG - Singapore 100
CN - Cina 87
VN - Vietnam 76
RU - Federazione Russa 69
BR - Brasile 56
HK - Hong Kong 54
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 10
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
IL - Israele 3
LT - Lituania 3
LV - Lettonia 3
MA - Marocco 3
MY - Malesia 3
UZ - Uzbekistan 3
CL - Cile 2
HN - Honduras 2
ID - Indonesia 2
PE - Perù 2
TN - Tunisia 2
TR - Turchia 2
AM - Armenia 1
AU - Australia 1
AZ - Azerbaigian 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
ET - Etiopia 1
GD - Grenada 1
HU - Ungheria 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 1.366
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Città #
Hong Kong 49
San Jose 49
Dublin 45
Singapore 40
Ashburn 36
Chandler 32
Dallas 31
Beijing 27
Los Angeles 27
Ho Chi Minh City 25
Pavia 24
Boardman 22
Milan 21
Hanoi 19
Florence 16
New York 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
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
Council Bluffs 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
Santa Clara 2
Srebrenik 2
Sumaré 2
Totale 848
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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 160
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations 158
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 107
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders 88
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy 87
Visual function in children with Joubert syndrome 80
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing 80
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum 78
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency 77
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 74
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 73
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 72
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature 69
Neuroradiologic, clinic and genetic characterization of cerebellar heterotopia: a pediatric multicentric study 67
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates 56
Expanding the natural history of CASK-related disorders to the prenatal period 56
Totale 1.382
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Categoria #
all - tutte 4.725
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 4.725
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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
2025/2026735 70 44 86 121 98 32 122 28 83 51 0 0
Totale 1.382