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1 . Academic Journal
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
저자
by
Rodolfo Tonin
;
Federica Feo
;
Silvia Falliano
;
Lorenzo Ferri
;
Laura Giunti
, et al.
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Stem Cell Research, Vol 73, Iss , Pp 103235- (2023)
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7 . Academic Journal
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction
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by
Costanza Ceni
;
Francesca Clemente
;
Francesca Mangiavacchi
;
Camilla Matassini
;
Rodolfo Tonin
, et al.
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Molecules, Vol 29, Iss 2, p 453 (2024)
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7 . Academic Journal
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C
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by
Claudia Capitini
;
Federica Feo
;
Anna Caciotti
;
Rodolfo Tonin
;
Matteo Lulli
, et al.
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Biomedicines, Vol 10, Iss 8, p 1962 (2022)
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7 . Academic Journal
High frequency of biotinidase deficiency in Italian population identified by newborn screening
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by
Silvia Funghini
;
Rodolfo Tonin
;
Sabrina Malvagia
;
Anna Caciotti
;
Maria Alice Donati
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100689- (2020)
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7 . Academic Journal
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
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by
Anna Caciotti
;
Rodolfo Tonin
;
Matthew Mort
;
David N. Cooper
;
Serena Gasperini
, et al.
소스
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)
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7 . Academic Journal
Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies
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by
Serena Catarzi
;
Anna Caciotti
;
Janita Thusberg
;
Rodolfo Tonin
;
Sabrina Malvagia
, et al.
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The Scientific World Journal, Vol 2013 (2013)
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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
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by
Moeenaldeen Al-Sayed
;
Yin-Hsiu Chien
;
Francesca D’Avanzo
;
Rodolfo Tonin
;
Hsiang-Yu Lin
, et al.
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Human Mutation
. 42:1384-1398
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7 .
Biocompatible and Printable Ionotronic Sensing Materials Based on Silk Fibroin and Soluble Plant-Derived Polyphenols
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by
Irene Chiesa
;
Carmelo De Maria
;
Rodolfo Tonin
;
Francesca Ripanti
;
Maria Rachele Ceccarini
, et al.
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ACS omega
. 7(48)
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7 .
Carbon Nanotubes/Regenerated Silk Composite as a Three-Dimensional Printable Bio-Adhesive Ink with Self-Powering Properties
저자
by
Luca Valentini
;
Antonino Morabito
;
Micaela Degli Esposti
;
Riccardo Coletta
;
Giacomo Giorgi
, et al.
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ACS Applied Materials & Interfaces
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7 .
Morquio B disease: From pathophysiology towards diagnosis
저자
by
Anna Caciotti
;
Maja Di Rocco
;
Giulia Forni
;
Davide Mei
;
Angelica Rampazzo
, et al.
소스
Molecular Genetics and Metabolism
. 132:180-188
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