NUOVO, SARA
 Distribuzione geografica
Continente #
NA - Nord America 479
EU - Europa 220
AS - Asia 108
AF - Africa 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 810
Nazione #
US - Stati Uniti d'America 475
IT - Italia 81
SG - Singapore 60
SE - Svezia 55
IN - India 36
DE - Germania 28
FI - Finlandia 23
RO - Romania 12
CN - Cina 6
IE - Irlanda 6
ID - Indonesia 5
CA - Canada 4
RU - Federazione Russa 4
UA - Ucraina 4
BG - Bulgaria 2
ES - Italia 2
CH - Svizzera 1
EU - Europa 1
GB - Regno Unito 1
KR - Corea 1
MU - Mauritius 1
NL - Olanda 1
ZA - Sudafrica 1
Totale 810
Città #
Fairfield 83
Singapore 47
Ashburn 41
San Paolo di Civitate 38
Santa Clara 28
Woodbridge 27
Helsinki 23
Houston 23
Cambridge 22
Princeton 22
Seattle 22
San Diego 21
Bremen 20
Lawrence 20
Chandler 19
Millbury 16
Wilmington 14
Ann Arbor 13
Rome 11
Andover 10
Dublin 6
New York 6
Boston 5
Jakarta 5
Stockholm 5
Bühl 4
San Mateo 4
Torre del Greco 4
Catania 3
Milan 3
Moscow 3
Norwalk 3
Toronto 3
Barcelona 2
Beijing 2
Bucharest 2
Falkenstein 2
Sofia 2
Berlin 1
Bern 1
Bologna 1
Bracciano 1
Cold Spring Harbor 1
Grafing 1
Ottawa 1
Parma 1
Philadelphia 1
Phoenix 1
Plano 1
Portland 1
Quanzhou 1
Silverton 1
Totale 598
Nome #
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 81
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome 66
Novel unconventional variants expand the allelic spectrum of OPHN1 gene 51
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance 49
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation 46
Genetics of cerebellar disorders 45
Between SCA5 and SCAR14: Delineation of the SPTBN2 p.R480W-associated phenotype 43
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective 43
Age and sex prevalence estimate of Joubert syndrome in Italy 41
Targeted Next Generation Sequencing in patients with Myotonia Congenita 41
Movement disorders and brain iron overload in a new subtype of aceruloplasminemia 39
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis 37
A novel IRF2BPL truncating variant is associated with endolysosomal storage 36
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study 35
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation (European Radiology, (2017), 27, 12, (5080-5092), 10.1007/s00330-017-4945-2) 34
CASK related disorder: Epilepsy and developmental outcome 33
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1 33
Healthcare recommendations for Joubert syndrome 32
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development 32
A clinical diagnostic algorithm for early onset cerebellar ataxia 32
The use of new mobile and gaming technologies for the assessment and rehabilitation of people with ataxia: a systematic review and meta-analysis 31
Totale 880
Categoria #
all - tutte 3.108
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 3.108


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202035 0 0 0 0 0 0 7 9 8 4 3 4
2020/2021186 1 3 2 0 2 1 2 12 19 86 32 26
2021/2022222 9 1 4 15 38 48 1 16 19 23 23 25
2022/2023192 41 64 5 44 6 5 1 5 18 2 1 0
2023/2024107 6 17 10 11 8 7 0 22 0 10 3 13
2024/2025102 8 5 25 10 26 27 1 0 0 0 0 0
Totale 880