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1 . Academic Journal
Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease
저자
by
Sechi, Annalisa
;
Salvadego, Desy
;
Da Ponte, Alessandro
;
Bertin, Nicole
;
Dardis, Andrea
, et al.
소스
In
Neuromuscular Disorders
June 2017 27(6):542-549
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7 . Academic Journal
A Streamlined Approach to Rapidly Detect SARS-CoV-2 Infection Avoiding RNA Extraction: Workflow Validation.
저자
by
Mio, Catia
;
Cifù, Adriana
;
Marzinotto, Stefania
;
Bergamin, Natascha
;
Caldana, Chiara
, et al.
소스
Disease Markers
. 12/16/2020, p1-5. 5p.
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7 . Periodical
GBAAnalysis in Next-Generation Era
저자
by
Zampieri, Stefania
;
Cattarossi, Silvia
;
Bembi, Bruno
;
Dardis, Andrea
.
소스
The Journal of Molecular Diagnostics; September 2017, Vol. 19 Issue: 5 p733-741, 9p
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6 . Academic Journal
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants
저자
by
Dardis, Andrea
;
Zampieri, Stefania
;
Gellera, Cinzia
;
Carrozzo, Rosalba
;
Cattarossi, Silvia
, et al.
소스
JOURNAL OF CLINICAL MEDICINE
; MAR 2020, 9 3, p679 21p.
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7 .
Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants
저자
by
Federica Deodato
;
Barbara Borroni
;
Antonio Toscano
;
Claudio Caccia
;
Stefania Zampieri
, et al.
소스
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 9; Issue 3; Pages: 679
Journal of Clinical Medicine, Vol 9, Iss 3, p 679 (2020)
Open Access (OpenAIRE)
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7 . Academic Journal
Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants.
저자
by
Zampieri, Stefania
;
Cattarossi, Silvia
;
Ramirez, Ana Maria Oller
;
Rosano, Camillo
;
Lourenco, Charles Marques
, et al.
소스
PLoS ONE
. Jul2012, Vol. 7 Issue 7, p1-10. 10p.
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7 . Academic Journal
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
저자
by
Zampieri, Stefania
;
Cattarossi, Silvia
;
Pavan, Eleonora
;
Barbato, Antonio
;
Fiumara, Agata
, et al.
소스
International Journal of Molecular Sciences
. Jun2021, Vol. 22 Issue 11, p5538. 1p.
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7 . Academic Journal
GBA Analysis in Next-Generation Era Pitfalls, Challenges, and Possible Solutions
저자
by
Zampieri, Stefania
;
Cattarossi, Silvia
;
Bembi, Bruno
;
Dardis, Andrea
.
소스
JOURNAL OF MOLECULAR DIAGNOSTICS
; SEP 2017, 19 5, p733-p741, 9p.
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6 . Academic Journal
Investigation on acute effects of ERT and influence of clinical severity on physiological variables related to exercise tolerance in late onset Pompe disease.
저자
by
Bembi, Bruno
;
Sechi, Annalisa
;
Salvadego, Desy
;
Andrea, Dardis
;
Cattarossi, Silvia
, et al.
소스
Molecular Genetics & Metabolism
. Jan2017, Vol. 120 Issue 1/2, pS26-S27. 1p.
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