TONIN, RODOLFO
 Distribuzione geografica
Continente #
EU - Europa 857
NA - Nord America 672
AS - Asia 177
AF - Africa 1
Continente sconosciuto - Info sul continente non disponibili 1
Totale 1.708
Nazione #
US - Stati Uniti d'America 670
PL - Polonia 352
RU - Federazione Russa 221
IT - Italia 119
IE - Irlanda 75
CN - Cina 42
HK - Hong Kong 41
SE - Svezia 41
SG - Singapore 35
JO - Giordania 24
IN - India 18
CH - Svizzera 14
FI - Finlandia 12
VN - Vietnam 10
GB - Regno Unito 5
DE - Germania 4
KR - Corea 4
BE - Belgio 3
IR - Iran 3
NL - Olanda 3
UA - Ucraina 3
BA - Bosnia-Erzegovina 2
CA - Canada 2
ES - Italia 2
CI - Costa d'Avorio 1
EU - Europa 1
GR - Grecia 1
Totale 1.708
Città #
Warsaw 352
Fairfield 87
Chandler 81
Dublin 72
Woodbridge 52
Houston 49
Seattle 48
Ashburn 41
Cambridge 41
Singapore 31
Wilmington 31
Florence 29
Altamura 26
Hong Kong 26
Lawrence 24
Ann Arbor 23
Beijing 22
Mumbai 17
Princeton 17
Bern 14
Boston 13
Milan 12
Moscow 12
Rome 12
Dong Ket 10
Boardman 6
Medford 6
New York 6
Menlo Park 5
San Diego 5
Seocho 4
Shanghai 4
Brussels 3
Lappeenranta 3
Padova 3
Phoenix 3
Aprilia 2
Bergamo 2
Cary 2
Catanzaro 2
Germantown 2
Girona 2
Kent 2
Lambrugo 2
London 2
Meda 2
Molfetta 2
Norwalk 2
Rapallo 2
Ratingen 2
Santa Clara 2
Sarajevo 2
Sassuolo 2
West Jordan 2
Wisconsin Rapids 2
Abidjan 1
Bremen 1
Brentford 1
Castellammare di Stabia 1
Chicago 1
Esslingen am Neckar 1
Falls Church 1
Fuzhou 1
Garbagnate Milanese 1
Genova 1
Groningen 1
Helsinki 1
Hillsboro 1
Jacksonville 1
Kilburn 1
Los Angeles 1
Napoli 1
Ottawa 1
Pune 1
Redwood City 1
Reston 1
Santa Marinella 1
Seveso 1
Tappahannock 1
Toronto 1
Venice 1
Westminster 1
Totale 1.255
Nome #
Galactosialidosis: review and analysis of CTSA gene mutations 246
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies. 225
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease 146
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. 110
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 105
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content 102
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) 100
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations 92
High frequency of biotinidase deficiency in Italian population identified by newborn screening 89
Atypical beta galactosidase molecular composition in a juvenile GM1 gangliosidosis patient 79
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome 65
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview 64
Morquio B disease: From pathophysiology towards diagnosis 63
3D Printing Silk-Based Bioresorbable Piezoelectric Self-Adhesive Holey Structures for in Vivo Monitoring on Soft Tissues 55
MCAD DEFICIENCY: INSIGHTS ON NOVEL MUTATIONS IN THE ACADM GENE 49
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants 45
null 38
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. 31
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction 30
Totale 1.734
Categoria #
all - tutte 5.305
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 5.305


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020218 0 0 0 15 31 31 25 30 24 31 27 4
2020/2021235 14 19 15 19 21 30 11 22 30 28 10 16
2021/2022109 5 2 5 8 5 9 5 6 11 7 2 44
2022/2023375 30 62 31 9 25 59 46 25 51 3 16 18
2023/2024154 12 11 18 7 9 18 11 37 3 11 9 8
2024/2025303 26 114 56 107 0 0 0 0 0 0 0 0
Totale 1.734