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Di Fruscio, Giuseppina
28  results:
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1

KRAS Mutational Regression Is Associated With Oligo-Metasta..:

Ottaiano, Alessandro ; Nasti, Guglielmo ; Santorsola, Mariachiara...
Frontiers in Oncology.  11 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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2

Targeted gene panel screening is an effective tool to ident..:

Savarese, Marco ; Torella, Annalaura ; Musumeci, Olimpia...
Neuromuscular Disorders.  28 (2018)  7 - p. 586-591 , 2018
Link: https://doi.org/10.1016/..
 
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3

Mutations in the PCYT1A gene are responsible for isolated f..:

Testa, Francesco ; Filippelli, Mariaelena ; Brunetti-Pierri, Raffaella...
European Journal of Human Genetics.  25 (2017)  5 - p. 651-655 , 2017
Link: https://doi.org/10.1038/..
 
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4

Clinical and Genetic Evaluation of a Cohort of Pediatric Pa..:

Di Iorio, Valentina ; Karali, Marianthi ; Brunetti-Pierri, Raffaella...
Genes.  8 (2017)  10 - p. 280 , 2017
Link: https://doi.org/10.3390/..
 
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5

The genetic basis of undiagnosed muscular dystrophies and m..:

Savarese, Marco ; Di Fruscio, Giuseppina ; Torella, Annalaura...
Neurology.  87 (2016)  1 - p. 71-76 , 2016
Link: https://doi.org/10.1212/..
 
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6

The italian limb girdle muscular dystrophy registry: Relati..:

Magri, Francesca ; Nigro, Vincenzo ; Angelini, Corrado...
Muscle & Nerve.  55 (2016)  1 - p. 55-68 , 2016
Link: https://doi.org/10.1002/..
 
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7

Next generation sequencing on patients with LGMD and nonspe..:

Savarese, Marco ; Di Fruscio, Giuseppina ; Tasca, Giorgio...
Neuromuscular Disorders.  25 (2015)  7 - p. 533-541 , 2015
Link: https://doi.org/10.1016/..
 
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8

Lysoplex: An efficient toolkit to detect DNA sequence varia..:

Di Fruscio, Giuseppina ; Schulz, Angela ; De Cegli, Rossella...
Autophagy.  11 (2015)  6 - p. 928-938 , 2015
Link: https://doi.org/10.1080/..
 
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9

Dominant muscular dystrophy with a novel SYNE1 gene mutatio:

Fanin, Marina ; Savarese, Marco ; Nascimbeni, Anna C....
Muscle & Nerve.  51 (2014)  1 - p. 145-147 , 2014
Link: https://doi.org/10.1002/..
 
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10

MotorPlex provides accurate variant detection across large ..:

Savarese, Marco ; Di Fruscio, Giuseppina ; Mutarelli, Margherita...
Acta Neuropathologica Communications.  2 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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11

Familial trisomy 6p in mother and daughter:

Savarese, Marco ; Grandone, Anna ; Perone, Lucia...
American Journal of Medical Genetics Part A.  161 (2013)  7 - p. 1675-1681 , 2013
Link: https://doi.org/10.1002/..
 
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12

Enhancer Chip: Detecting Human Copy Number Variations in Re..:

Savarese, Marco ; Piluso, Giulio ; Orteschi, Daniela...
PLoS ONE.  7 (2012)  12 - p. e52264 , 2012
Link: https://doi.org/10.1371/..
 
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13

KRAS Mutational Regression Is Associated With Oligo-Metasta..:

Ottaiano, Alessandro ; Nasti, Guglielmo ; Santorsola, Mariachiara...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8039443/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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14

Targeted gene panel screening is an effective tool to ident..:

Savarese, Marco ; Torella, Annalaura ; Musumeci, Olimpia...
10.1016/j.nmd.2018.03.011.  , 2019
Link: http://hdl.handle.net/10..
 
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15

Interpreting Genetic Variants in Titin in Patients With Mus..:

Savarese, Marco ; Maggi, Lorenzo ; Vihola, Anna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885217/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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