TONIN, RODOLFO
 Distribuzione geografica
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Continente #
NA - Nord America 1.577
EU - Europa 1.224
AS - Asia 780
SA - Sud America 195
AF - Africa 21
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 1
Totale 3.804
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Nazione #
US - Stati Uniti d'America 1.537
PL - Polonia 354
RU - Federazione Russa 324
IT - Italia 283
SG - Singapore 190
CN - Cina 183
BR - Brasile 162
VN - Vietnam 131
HK - Hong Kong 99
IE - Irlanda 72
KR - Corea 59
SE - Svezia 48
FI - Finlandia 28
IN - India 28
JO - Giordania 24
DE - Germania 21
FR - Francia 21
CA - Canada 20
GB - Regno Unito 16
JP - Giappone 16
BD - Bangladesh 15
CH - Svizzera 15
ID - Indonesia 14
ES - Italia 12
AR - Argentina 10
MX - Messico 9
IQ - Iraq 7
NL - Olanda 7
ZA - Sudafrica 7
CO - Colombia 6
UA - Ucraina 6
AU - Australia 5
EC - Ecuador 5
EG - Egitto 4
VE - Venezuela 4
AT - Austria 3
BE - Belgio 3
IR - Iran 3
JM - Giamaica 3
PE - Perù 3
TR - Turchia 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
TN - Tunisia 2
UY - Uruguay 2
BO - Bolivia 1
CR - Costa Rica 1
EU - Europa 1
GR - Grecia 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
LT - Lituania 1
ML - Mali 1
NZ - Nuova Zelanda 1
PA - Panama 1
PH - Filippine 1
PK - Pakistan 1
PS - Palestinian Territory 1
PT - Portogallo 1
SO - Somalia 1
Totale 3.804
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Città #
Santa Clara 389
Warsaw 354
Ashburn 221
Singapore 144
Fairfield 87
Hong Kong 83
Chandler 78
Dublin 68
Seoul 55
Milan 54
Beijing 52
Woodbridge 52
Houston 50
Seattle 50
San Jose 49
Ho Chi Minh City 42
Cambridge 41
Florence 34
Rome 32
Hefei 31
Wilmington 31
Altamura 26
Hanoi 26
Lawrence 24
Ann Arbor 23
Los Angeles 22
Council Bluffs 20
Mumbai 19
Moscow 18
Princeton 18
Lauterbourg 16
New York 15
Tokyo 15
Bern 14
Boston 14
Dallas 14
São Paulo 14
Dong Ket 10
Helsinki 10
Jakarta 10
Munich 9
Phoenix 9
Buffalo 8
Lappeenranta 8
Liaocheng 8
Boardman 7
Rio de Janeiro 7
Stockholm 7
Belo Horizonte 6
Da Nang 6
Kent 6
Medford 6
Melbourne 6
The Dalles 6
Brasília 5
Chicago 5
Haiphong 5
Johannesburg 5
Menlo Park 5
Redondo Beach 5
San Diego 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
Madrid 3
Mexico City 3
Naples 3
Padova 3
Recife 3
Toronto 3
Abidjan 2
Aktau 2
Ancona 2
Aprilia 2
Arnhem 2
Austin 2
Bakersfield 2
Barra do Piraí 2
Bengaluru 2
Bergamo 2
Blumenau 2
Bogotá 2
Brooklyn 2
Bucaramanga 2
Cairo 2
Campo Bom 2
Cary 2
Totale 2.570
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Nome #
Galactosialidosis: review and analysis of CTSA gene mutations 332
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. 324
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease 254
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 223
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 195
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content 195
High frequency of biotinidase deficiency in Italian population identified by newborn screening 194
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. 193
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) 189
3D Printing Silk-Based Bioresorbable Piezoelectric Self-Adhesive Holey Structures for in Vivo Monitoring on Soft Tissues 177
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome 176
Atypical beta galactosidase molecular composition in a juvenile GM1 gangliosidosis patient 172
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview 169
Morquio B disease: From pathophysiology towards diagnosis 158
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction 150
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants 145
MCAD DEFICIENCY: INSIGHTS ON NOVEL MUTATIONS IN THE ACADM GENE 136
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C 133
GBA genotype- Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region 117
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 108
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. 63
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden 29
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content 8
Totale 3.840
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Categoria #
all - tutte 10.038
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 10.038
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022109 5 2 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
2026/202753 53 0 0 0 0 0 0 0 0 0 0 0
Totale 3.840