IRIS
SERPIERI, VALENTINA
 Distribuzione geografica
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Continente #
NA - Nord America 691
AS - Asia 444
EU - Europa 434
SA - Sud America 85
Continente sconosciuto - Info sul continente non disponibili 25
AF - Africa 20
OC - Oceania 2
Totale 1.701
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Nazione #
US - Stati Uniti d'America 662
CN - Cina 130
SG - Singapore 118
IT - Italia 105
RU - Federazione Russa 86
IE - Irlanda 80
HK - Hong Kong 65
VN - Vietnam 61
BR - Brasile 56
DE - Germania 41
FR - Francia 24
GB - Regno Unito 23
FI - Finlandia 22
CA - Canada 16
ZA - Sudafrica 14
BD - Bangladesh 13
JP - Giappone 12
IN - India 11
AT - Austria 10
AR - Argentina 7
CO - Colombia 7
ES - Italia 7
MX - Messico 7
PL - Polonia 7
IQ - Iraq 6
PK - Pakistan 6
BE - Belgio 5
VE - Venezuela 5
NL - Olanda 4
TN - Tunisia 4
UA - Ucraina 4
UZ - Uzbekistan 4
CL - Cile 3
EC - Ecuador 3
ID - Indonesia 3
LT - Lituania 3
TR - Turchia 3
AU - Australia 2
BO - Bolivia 2
HN - Honduras 2
MT - Malta 2
MY - Malesia 2
RO - Romania 2
SE - Svezia 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
CZ - Repubblica Ceca 1
ET - Etiopia 1
GD - Grenada 1
HU - Ungheria 1
IL - Israele 1
JM - Giamaica 1
KE - Kenya 1
KG - Kirghizistan 1
KR - Corea 1
LU - Lussemburgo 1
LV - Lettonia 1
MM - Myanmar 1
NP - Nepal 1
PA - Panama 1
PE - Perù 1
PH - Filippine 1
PS - Palestinian Territory 1
PT - Portogallo 1
SA - Arabia Saudita 1
SR - Suriname 1
VC - Saint Vincent e Grenadine 1
Totale 1.676
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Città #
Dublin 80
San Jose 78
Ashburn 75
Chandler 61
Hong Kong 61
Dallas 53
Singapore 52
Beijing 38
Los Angeles 37
Boardman 33
Council Bluffs 28
New York 23
Shanghai 23
Hanoi 19
Ho Chi Minh City 19
Helsinki 17
Lauterbourg 16
Milan 16
Munich 14
Johannesburg 11
Moscow 11
Tokyo 11
Figino 10
São Paulo 10
Buffalo 9
Pavia 9
Redondo Beach 9
Montreal 8
Nuremberg 8
Princeton 8
Falkenstein 7
Lawrence 7
Orem 7
Warsaw 7
Manchester 6
Medford 6
Toronto 6
Brussels 5
Columbus 5
Florence 5
Rome 5
Santa Clara 5
Turku 5
Baghdad 4
Cagliari 4
Changsha 4
Da Nang 4
Denver 4
Houston 4
Mexico City 4
Phoenix 4
Seattle 4
Tashkent 4
The Dalles 4
Wilmington 4
Atlanta 3
Brasília 3
Brooklyn 3
Chicago 3
Des Moines 3
Frankfurt am Main 3
Innsbruck 3
London 3
Pescara 3
San Francisco 3
Tunis 3
Turin 3
Vienna 3
Washington 3
Albignasego 2
Berlin 2
Bogotá 2
Bologna 2
Botucatu 2
Brescia 2
Busto Arsizio 2
Can Tho 2
Carney 2
Castellammare di Stabia 2
Catania 2
Chennai 2
Cincinnati 2
Dhaka 2
Gandía 2
Haiphong 2
Harrisburg 2
Kyiv 2
Miami 2
Monfalcone 2
Mumbai 2
Norwalk 2
Novara 2
Paris 2
Parma 2
Philadelphia 2
Puerto Iguazú 2
Pune 2
Quito 2
San Bernardo 2
Stockholm 2
Totale 1.075
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Nome #
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 136
A novel IRF2BPL truncating variant is associated with endolysosomal storage 112
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 110
Genetic and functional characterization of cerebellar and brainstem congenital defects 109
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 108
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment 106
Age and sex prevalence estimate of Joubert syndrome in Italy 97
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders 93
Visual function in children with Joubert syndrome 87
Genotype-phenotype correlates in Joubert syndrome: A review 82
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene 81
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum 80
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 79
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 75
Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants 65
Generation of iPSC lines derived from skin fibroblasts of two healthy controls using non-transmissible form of Sendai Virus 62
Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene 61
Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 gene 49
Phenotypic definition and genotype-phenotype correlates in pmpca-related disease 47
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued 40
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement 7
Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies 7
KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights 5
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome 3
Totale 1.701
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Categoria #
all - tutte 7.335
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 7.335
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/202232 0 0 1 0 0 0 0 3 2 0 5 21
2022/2023200 20 15 2 10 17 22 0 8 91 1 7 7
2023/2024146 14 20 4 2 9 19 20 6 0 4 26 22
2024/2025354 5 19 4 4 8 18 21 32 124 19 36 64
2025/2026877 77 51 73 145 119 37 145 31 85 43 44 27
2026/202775 6 69 0 0 0 0 0 0 0 0 0 0
Totale 1.701