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1 . Academic Journal
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
저자
by
Savarese, Marco
;
Musumeci, Olimpia
;
Giugliano, Teresa
;
Rubegni, Anna
;
Fiorillo, Chiara
, et al.
소스
In
Neuromuscular Disorders
April-May 2016 26(4-5):292-299
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7 . Academic Journal
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.
저자
by
Torella, Annalaura
;
Zanobio, Mariateresa
;
Zeuli, Roberta
;
del Vecchio Blanco, Francesca
;
Savarese, Marco
, et al.
소스
PLoS ONE
. 8/19/2020, Vol. 15 Issue 8, p1-13. 13p.
Web of Science
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7 .
Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results
저자
by
Giugliano, Teresa
;
Fanin, Marina
;
Savarese, Marco
;
Piluso, Giulio
;
Angelini, Corrado
, et al.
소스
In
Neuromuscular Disorders
June 2016 26(6):367-369
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7 . Periodical
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)
저자
by
Savarese, Marco
;
Qureshi, Talha
;
Torella, Annalaura
;
Laine, Pia
;
Giugliano, Teresa
, et al.
소스
Journal of Neuromuscular Diseases; September 2020, Vol. 7 Issue: 4 p477-481, 5p
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7 . Periodical
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies
저자
by
Savarese, Marco
;
Johari, Mridul
;
Johnson, Katherine
;
Arumilli, Meharji
;
Torella, Annalaura
, et al.
소스
Journal of Neuromuscular Diseases; March 2020, Vol. 7 Issue: 2 p153-166, 14p
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7 . Periodical
Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model
저자
by
Välipakka, Salla
;
Savarese, Marco
;
Sagath, Lydia
;
Arumilli, Meharji
;
Giugliano, Teresa
, et al.
소스
The Journal of Molecular Diagnostics; January 2020, Vol. 22 Issue: 1 p40-49, 10p
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7 . Academic Journal
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements.
저자
by
Piluso, Giulio
;
Monteleone, Palmiero
;
Galderisi, Silvana
;
Giugliano, Teresa
;
Bertolino, Alessandro
, et al.
소스
World Journal of Biological Psychiatry
. Feb2019, Vol. 20 Issue 2, p126-136. 11p.
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7 . Academic Journal
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity.
저자
by
Roberti, Domenico
;
Conforti, Renata
;
Giugliano, Teresa
;
Brogna, Barbara
;
Tartaglione, Immacolata
, et al.
소스
Frontiers in Genetics; 11/19/2018, p1-9, 9p, 2 Black and White Photographs, 2 Graphs
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7 . Academic Journal
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.
저자
by
Santoro, Claudia
;
Giugliano, Teresa
;
Kraemer, Markus
;
Torella, Annalaura
;
Schwitalla, Jan Claudius
, et al.
소스
PLoS ONE
. 7/12/2018, Vol. 13 Issue 7, p1-15. 15p.
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7 . Academic Journal
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
저자
by
Savarese, Marco
;
Torella, Annalaura
;
Musumeci, Olimpia
;
Angelini, Corrado
;
Astrea, Guja
, et al.
소스
Neuromuscular Disorders
. Jul2018, Vol. 28 Issue 7, p586-591. 6p.
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