TONIN, RODOLFO
 Distribuzione geografica
Continente #
NA - Nord America 1.675
EU - Europa 1.242
AS - Asia 786
SA - Sud America 201
Continente sconosciuto - Info sul continente non disponibili 37
AF - Africa 21
OC - Oceania 6
Totale 3.968
Nazione #
US - Stati Uniti d'America 1.619
PL - Polonia 354
RU - Federazione Russa 324
IT - Italia 298
SG - Singapore 190
CN - Cina 184
BR - Brasile 166
VN - Vietnam 132
HK - Hong Kong 99
IE - Irlanda 72
KR - Corea 59
SE - Svezia 48
CA - Canada 30
FI - Finlandia 28
IN - India 28
JO - Giordania 24
DE - Germania 22
FR - Francia 21
GB - Regno Unito 16
JP - Giappone 16
BD - Bangladesh 15
CH - Svizzera 15
ID - Indonesia 14
ES - Italia 12
AR - Argentina 10
MX - Messico 10
NL - Olanda 8
EC - Ecuador 7
IQ - Iraq 7
ZA - Sudafrica 7
CO - Colombia 6
UA - Ucraina 6
AU - Australia 5
JM - Giamaica 5
EG - Egitto 4
TR - Turchia 4
VE - Venezuela 4
AT - Austria 3
BE - Belgio 3
IR - Iran 3
PE - Perù 3
TT - Trinidad e Tobago 3
AE - Emirati Arabi Uniti 2
AL - Albania 2
BA - Bosnia-Erzegovina 2
CI - Costa d'Avorio 2
CL - Cile 2
CZ - Repubblica Ceca 2
DZ - Algeria 2
GT - Guatemala 2
KZ - Kazakistan 2
MA - Marocco 2
MY - Malesia 2
PH - Filippine 2
TN - Tunisia 2
UY - Uruguay 2
BB - Barbados 1
BO - Bolivia 1
BS - Bahamas 1
CR - Costa Rica 1
EU - Europa 1
GP - Guadalupe 1
GR - Grecia 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
LT - Lituania 1
MK - Macedonia 1
ML - Mali 1
NZ - Nuova Zelanda 1
PA - Panama 1
PK - Pakistan 1
PS - Palestinian Territory 1
PT - Portogallo 1
SO - Somalia 1
Totale 3.932
Città #
Santa Clara 395
Warsaw 354
Ashburn 226
Singapore 144
Fairfield 87
Hong Kong 83
Chandler 78
San Jose 71
Dublin 68
Milan 55
Seoul 55
Beijing 52
Woodbridge 52
Houston 50
Seattle 50
Ho Chi Minh City 43
Cambridge 41
Council Bluffs 37
Florence 36
Rome 33
Wilmington 32
Hefei 31
Altamura 27
Hanoi 26
Los Angeles 26
Lawrence 24
Ann Arbor 23
Mumbai 19
Moscow 18
Princeton 18
Lauterbourg 16
Dallas 15
New York 15
Tokyo 15
Bern 14
Boston 14
São Paulo 14
Phoenix 11
Buffalo 10
Dong Ket 10
Helsinki 10
Jakarta 10
Munich 9
Lappeenranta 8
Liaocheng 8
Rio de Janeiro 8
Boardman 7
Stockholm 7
Belo Horizonte 6
Brasília 6
Da Nang 6
Kent 6
Medford 6
Melbourne 6
The Dalles 6
Chicago 5
Haiphong 5
Johannesburg 5
Menlo Park 5
Redondo Beach 5
San Diego 5
Toronto 5
Turin 5
Bologna 4
Campinas 4
London 4
Orem 4
Paris 4
Pisa 4
San Francisco 4
Seocho 4
Shanghai 4
Bari 3
Biên Hòa 3
Brussels 3
Covina 3
Frankfurt am Main 3
Guangzhou 3
Las Vegas 3
Madrid 3
Mexico City 3
Montreal 3
Naples 3
Nuremberg 3
Ottawa 3
Padova 3
Recife 3
Stamford 3
Winnipeg 3
Abidjan 2
Aktau 2
Ancona 2
Antakya 2
Aprilia 2
Arnhem 2
Austin 2
Bakersfield 2
Barra do Piraí 2
Bengaluru 2
Bergamo 2
Totale 2.646
Nome #
Galactosialidosis: review and analysis of CTSA gene mutations 337
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. 328
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease 258
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 226
High frequency of biotinidase deficiency in Italian population identified by newborn screening 203
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 202
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content 200
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. 196
A new hybrid approach for MHC genotyping: high-throughput NGS and long read MinION nanopore sequencing, with application to the non-model vertebrate Alpine chamois (Rupicapra rupicapra) 193
3D Printing Silk-Based Bioresorbable Piezoelectric Self-Adhesive Holey Structures for in Vivo Monitoring on Soft Tissues 181
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome 179
Atypical beta galactosidase molecular composition in a juvenile GM1 gangliosidosis patient 177
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview 171
Morquio B disease: From pathophysiology towards diagnosis 164
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction 155
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants 149
MCAD DEFICIENCY: INSIGHTS ON NOVEL MUTATIONS IN THE ACADM GENE 145
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C 136
GBA genotype- Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region 131
Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene 119
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. 71
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden 36
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content 11
Totale 3.968
Categoria #
all - tutte 10.710
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 10.710


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022102 0 0 5 8 5 9 5 6 11 7 2 44
2022/2023366 30 62 30 9 24 57 43 25 50 2 16 18
2023/2024151 12 11 16 6 9 18 11 37 3 11 9 8
2024/20251.045 24 108 51 129 315 163 24 45 50 30 40 66
2025/20261.323 143 171 118 185 121 47 121 62 77 88 50 140
2026/2027181 84 40 57 0 0 0 0 0 0 0 0 0
Totale 3.968