IRIS
SERPIERI, VALENTINA
 Distribuzione geografica
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Continente #
NA - Nord America 603
AS - Asia 435
EU - Europa 388
SA - Sud America 84
AF - Africa 19
OC - Oceania 2
Totale 1.531
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Nazione #
US - Stati Uniti d'America 578
CN - Cina 129
SG - Singapore 117
RU - Federazione Russa 86
IE - Irlanda 80
HK - Hong Kong 64
VN - Vietnam 61
IT - Italia 59
BR - Brasile 56
DE - Germania 41
FR - Francia 24
GB - Regno Unito 23
FI - Finlandia 22
CA - Canada 14
ZA - Sudafrica 14
JP - Giappone 12
IN - India 11
AT - Austria 10
BD - Bangladesh 9
AR - Argentina 7
ES - Italia 7
MX - Messico 7
PL - Polonia 7
CO - Colombia 6
IQ - Iraq 6
BE - Belgio 5
PK - Pakistan 5
VE - Venezuela 5
NL - Olanda 4
UA - Ucraina 4
UZ - Uzbekistan 4
CL - Cile 3
EC - Ecuador 3
ID - Indonesia 3
LT - Lituania 3
TN - Tunisia 3
TR - Turchia 3
AU - Australia 2
BO - Bolivia 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
HN - Honduras 1
HU - Ungheria 1
IL - Israele 1
KE - Kenya 1
KG - Kirghizistan 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 1.531
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Città #
Dublin 80
Ashburn 73
Chandler 61
Hong Kong 60
San Jose 53
Singapore 52
Dallas 50
Beijing 38
Los Angeles 36
Boardman 32
Shanghai 23
Hanoi 19
Ho Chi Minh City 19
New York 19
Helsinki 17
Lauterbourg 16
Munich 14
Johannesburg 11
Moscow 11
Tokyo 11
Milan 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
Brussels 5
Council Bluffs 5
Toronto 5
Turku 5
Baghdad 4
Cagliari 4
Changsha 4
Da Nang 4
Denver 4
Mexico City 4
Phoenix 4
Tashkent 4
The Dalles 4
Wilmington 4
Atlanta 3
Brasília 3
Brooklyn 3
Chicago 3
Des Moines 3
Florence 3
Frankfurt am Main 3
Houston 3
Innsbruck 3
London 3
San Francisco 3
Vienna 3
Washington 3
Albignasego 2
Berlin 2
Botucatu 2
Busto Arsizio 2
Can Tho 2
Carney 2
Castellammare di Stabia 2
Chennai 2
Cincinnati 2
Dhaka 2
Gandía 2
Haiphong 2
Harrisburg 2
Kyiv 2
Monfalcone 2
Mumbai 2
Norwalk 2
Novara 2
Paris 2
Parma 2
Pescara 2
Puerto Iguazú 2
Pune 2
Quito 2
San Bernardo 2
Seattle 2
Stockholm 2
São José do Rio Preto 2
Topeka 2
Trieste 2
Tunis 2
Varedo 2
Vinh 2
Vĩnh Long 2
Xi'an 2
Zhengzhou 2
Zhoukou 2
Acalanes Ridge 1
Addis Ababa 1
Totale 981
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Nome #
A novel IRF2BPL truncating variant is associated with endolysosomal storage 112
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 107
Genetic and functional characterization of cerebellar and brainstem congenital defects 106
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 105
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment 101
Age and sex prevalence estimate of Joubert syndrome in Italy 92
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders 88
Visual function in children with Joubert syndrome 80
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene 79
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum 77
Genotype-phenotype correlates in Joubert syndrome: A review 76
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 73
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 73
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 72
Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants 62
Generation of iPSC lines derived from skin fibroblasts of two healthy controls using non-transmissible form of Sendai Virus 60
Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene 55
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 48
Phenotypic definition and genotype-phenotype correlates in pmpca-related disease 46
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued 39
Totale 1.551
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Categoria #
all - tutte 6.244
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 6.244
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20219 0 0 0 0 0 0 0 0 0 0 0 9
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
2025/2026802 77 51 73 145 119 37 145 31 85 39 0 0
Totale 1.551