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/vufind/Search/Results?lookfor=%22Tonin%2C+Rodolfo%22&type=Person&sort=year
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PubPharm (28)
1
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector
enthalten in:
Stem cell research
| 2024
von
Tonin, R.
|
Feo, F.
|
Falliano, S.
| +10
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2
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction
enthalten in:
Molecules (Basel, Switzerland)
| 2024
von
Ceni, C.
|
Clemente, F.
|
Mangiavacchi, F.
| +8
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3
Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector
enthalten in:
Stem cell research
| 2023
von
Tonin, R.
|
Feo, F.
|
Falliano, S.
| +10
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4
Biocompatible and Printable Ionotronic Sensing Materials Based on Silk Fibroin and Soluble Plant-Derived Polyphenols
enthalten in:
ACS omega
| 2022
von
Chiesa, I.
|
De Maria, C.
|
Tonin, R.
| +13
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5
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C
enthalten in:
Biomedicines
| 2022
von
Capitini, C.
|
Feo, F.
|
Caciotti, A.
| +6
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6
3D Printing Silk-Based Bioresorbable Piezoelectric Self-Adhesive Holey Structures for In Vivo Monitoring on Soft Tissues
enthalten in:
ACS applied materials & interfaces
| 2022
von
Chiesa, I.
|
De Maria, C.
|
Ceccarini, M.
| +8
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7
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome) : A review and classification of GALNS gene variants and reporting of 68 novel variants
enthalten in:
Human mutation
| 2021
von
Zanetti, A.
|
D'Avanzo, F.
|
AlSayed, M.
| +13
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8
Carbon Nanotubes/Regenerated Silk Composite as a Three-Dimensional Printable Bio-Adhesive Ink with Self-Powering Properties
enthalten in:
ACS applied materials & interfaces
| 2021
von
Bon, S.
|
Chiesa, I.
|
Degli Esposti, M.
| +11
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9
Morquio B disease : From pathophysiology towards diagnosis
enthalten in:
Molecular genetics and metabolism
| 2021
von
Caciotti, A.
|
Cellai, L.
|
Tonin, R.
| +11
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10
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome) : A review and classification of GALNS gene variants and reporting of 68 novel variants
enthalten in:
Human mutation
| 2021
von
Zanetti, A.
|
D'Avanzo, F.
|
AlSayed, M.
| +13
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Medienart
28
Aufsätze
25
E-Artikel
25
E-Ressourcen
3
Gedruckte Aufsätze
Zeitschriftentitel
4
Human mutation
4
Journal of neurology
3
BMC medical genetics
2
ACS applied materials & interfaces
2
Molecular genetics and metabolism
2
Orphanet journal of rare diseases
2
Stem cell research
1
ACS omega
1
BBA clinical
1
Biomedicines
1
Clinica chimica acta
1
Clinica chimica acta; international journal of ...
1
Molecular genetics and metabolism reports
1
Molecules (Basel, Switzerland)
1
Scientific reports
1
TheScientificWorldJournal
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Thema
19
Journal Article
8
Research Support, Non-U.S. Gov't
6
GALNS
5
Case Reports
5
Synonymous mutation
4
Exon skipping
4
Exonic splicing enhancer
4
Gaucher Disease
4
Progressive myoclonic epilepsy
3
Chondroitinsulfatases
3
Deep intronic mutations
3
EC 3.1.6.-
3
EC 3.1.6.4
3
GALNS protein, human
3
Morquio a disease
3
Mucopolysaccharidosis IVA
3
Review
3
Whole gene sequencing
3
gene
3
mRNA defects
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Erscheinungszeitraum
12
2020-
16
2010-2019
Erscheinungsjahr(e)
Von:
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Sprache
27
Englisch
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