IRIS
SERPIERI, VALENTINA
 Distribuzione geografica
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Continente #
NA - Nord America 493
EU - Europa 340
AS - Asia 303
SA - Sud America 58
AF - Africa 6
Totale 1.200
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Nazione #
US - Stati Uniti d'America 471
CN - Cina 118
RU - Federazione Russa 85
SG - Singapore 80
IE - Irlanda 79
IT - Italia 55
HK - Hong Kong 50
BR - Brasile 46
DE - Germania 37
VN - Vietnam 22
FI - Finlandia 20
GB - Regno Unito 19
CA - Canada 13
JP - Giappone 10
AT - Austria 8
FR - Francia 7
ES - Italia 6
MX - Messico 6
BD - Bangladesh 5
PL - Polonia 5
ZA - Sudafrica 5
BE - Belgio 4
IN - India 4
NL - Olanda 4
AR - Argentina 3
TR - Turchia 3
UZ - Uzbekistan 3
VE - Venezuela 3
CL - Cile 2
LT - Lituania 2
SE - Svezia 2
UA - Ucraina 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
BG - Bulgaria 1
CO - Colombia 1
EC - Ecuador 1
HN - Honduras 1
ID - Indonesia 1
IQ - Iraq 1
KE - Kenya 1
KG - Kirghizistan 1
LU - Lussemburgo 1
LV - Lettonia 1
MT - Malta 1
MY - Malesia 1
PA - Panama 1
PE - Perù 1
PK - Pakistan 1
RO - Romania 1
SA - Arabia Saudita 1
SR - Suriname 1
VC - Saint Vincent e Grenadine 1
Totale 1.200
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Città #
Dublin 79
Chandler 61
Ashburn 60
Dallas 50
Hong Kong 50
Beijing 38
Boardman 32
Los Angeles 30
Singapore 29
Shanghai 22
New York 18
Helsinki 15
Munich 14
Moscow 11
Milan 10
Tokyo 10
Pavia 9
Redondo Beach 9
Buffalo 8
Nuremberg 8
Princeton 8
São Paulo 8
Falkenstein 7
Hanoi 7
Lawrence 7
Montreal 7
Medford 6
Ho Chi Minh City 5
Manchester 5
Toronto 5
Turku 5
Warsaw 5
Brussels 4
Cagliari 4
Changsha 4
Denver 4
Johannesburg 4
Orem 4
Phoenix 4
The Dalles 4
Wilmington 4
Atlanta 3
Brasília 3
Brooklyn 3
Chicago 3
Council Bluffs 3
Des Moines 3
Florence 3
Houston 3
Innsbruck 3
Mexico City 3
San Francisco 3
Tashkent 3
Washington 3
Albignasego 2
Berlin 2
Botucatu 2
Busto Arsizio 2
Can Tho 2
Carney 2
Castellammare di Stabia 2
Cincinnati 2
Dhaka 2
Gandía 2
Harrisburg 2
London 2
Monfalcone 2
Norwalk 2
Novara 2
Paris 2
Parma 2
Pescara 2
Pune 2
Seattle 2
Stockholm 2
São José do Rio Preto 2
Topeka 2
Trieste 2
Varedo 2
Vienna 2
Xi'an 2
Zhengzhou 2
Zhoukou 2
Aksaray 1
Alagoinhas 1
Amargosa 1
Amsterdam 1
Ankara 1
Ann Arbor 1
Anyang 1
Anápolis 1
Araci 1
Auburn 1
Avigliana 1
Baghdad 1
Barquisimeto 1
Barra do Choça 1
Belo Horizonte 1
Bishkek 1
Boston 1
Totale 788
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Nome #
Genetic and functional characterization of cerebellar and brainstem congenital defects 92
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity 92
A novel IRF2BPL truncating variant is associated with endolysosomal storage 87
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 86
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment 76
Age and sex prevalence estimate of Joubert syndrome in Italy 73
Visual function in children with Joubert syndrome 64
Genotype-phenotype correlates in Joubert syndrome: A review 63
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders 63
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene 60
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia 60
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum 58
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome 55
Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants 49
Generation of iPSC lines derived from skin fibroblasts of two healthy controls using non-transmissible form of Sendai Virus 48
Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene 45
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 42
Phenotypic definition and genotype-phenotype correlates in pmpca-related disease 38
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 37
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued 32
Totale 1.220
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Categoria #
all - tutte 5.668
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 5.668
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202113 0 0 0 0 0 3 0 1 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
2025/2026471 77 51 73 145 119 6 0 0 0 0 0 0
Totale 1.220