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1 . Academic Journal
KRAS Mutational Regression Is Associated With Oligo-Metastatic Status and Good Prognosis in Metastatic Colorectal Cancer
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by
Alessandro Ottaiano
;
Guglielmo Nasti
;
Mariachiara Santorsola
;
Vincenzo Altieri
;
Giuseppina Di Fruscio
, et al.
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Frontiers in Oncology, Vol 11 (2021)
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7 . Academic Journal
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies
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by
Valentina Di Iorio
;
Marianthi Karali
;
Raffaella Brunetti-Pierri
;
Mariaelena Filippelli
;
Giuseppina Di Fruscio
, et al.
소스
Genes, Vol 8, Iss 10, p 280 (2017)
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7 . Academic Journal
Enhancer chip: detecting human copy number variations in regulatory elements.
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by
Marco Savarese
;
Giulio Piluso
;
Daniela Orteschi
;
Giuseppina Di Fruscio
;
Manuela Dionisi
, et al.
소스
PLoS ONE, Vol 7, Iss 12, p e52264 (2012)
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7 .
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
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by
H. Luque
;
Maria Barbara Pasanisi
;
Giorgio Tasca
;
Marco Savarese
;
Corrado Angelini
, et al.
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Open Access (OpenAIRE)
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7 .
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
저자
by
Simone Sampaolo
;
Claudio Semplicini
;
Olimpia Farina
;
Arcomaria Garofalo
;
Giacomo P. Comi
, et al.
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7 .
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway
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by
Giuseppina Di Fruscio
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Andrea Ballabio
;
Vincenzo Nigro
;
Thomas Braulke
;
Angela Schulz
, et al.
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Autophagy
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7 .
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy
저자
by
Vincenzo Nigro
;
Nicola Brunetti-Pierri
;
Mariaelena Filippelli
;
Valentina Di Iorio
;
Giuseppina Di Fruscio
, et al.
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7 .
Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex
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by
Sandro Banfi
;
Andrea Ballabio
;
Vincenzo Nigro
;
Giuseppina Di Fruscio
;
Di Fruscio, Giuseppina
, et al.
소스
Methods in Molecular Biology ISBN: 9781493969326
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7 .
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies
저자
by
Francesca Simonelli
;
Raffaella Brunetti-Pierri
;
Mariateresa Pizzo
;
Giuseppina Di Fruscio
;
Marianthi Karali
, et al.
소스
Genes, Vol 8, Iss 10, p 280 (2017)
Genes; Volume 8; Issue 10; Pages: 280
Genes
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7 .
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
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by
Marina Mora
;
Claudio Bruno
;
Gabriele Siciliano
;
Carlo Minetti
;
Francesca Magri
, et al.
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