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1 . Academic Journal
Next Generation Sequencing for Systematic Assessment of Genetics of Small-Vessel Disease and Lacunar Stroke
저자
by
Bersano, Anna
;
Zuffardi, Orsetta
;
Pantoni, Leonardo
;
Quaglini, Silvana
;
Ciccone, Roberto
, et al.
소스
In
Journal of Stroke and Cerebrovascular Diseases
April 2015 24(4):759-765
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7 . Academic Journal
Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation
저자
by
Piccione, Maria
;
Piro, Ettore
;
Serraino, Francesca
;
Cavani, Simona
;
Ciccone, Roberto
, et al.
소스
In
European Journal of Medical Genetics
April 2012 55(4):238-244
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7 . Academic Journal
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene
저자
by
Bayindir, Baran
;
Piazza, Elena
;
Della Mina, Erika
;
Limongelli, Ivan
;
Brustia, Francesca
, et al.
소스
In
European Journal of Medical Genetics
October 2013 56(10):551-555
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7 . Academic Journal
MEF2C deletions and mutations versus duplications: A clinical comparison
저자
by
Novara, Francesca
;
Rizzo, Ambra
;
Bedini, Gloria
;
Girgenti, Vita
;
Esposito, Silvia
, et al.
소스
In
European Journal of Medical Genetics
May 2013 56(5):260-265
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7 . Academic Journal
5p13 microduplication syndrome: A new case and better clinical definition of the syndrome
저자
by
Novara, Francesca
;
Alfei, Enrico
;
D'Arrigo, Stefano
;
Pantaleoni, Chiara
;
Beri, Silvana
, et al.
소스
In
European Journal of Medical Genetics
January 2013 56(1):54-58
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7 . Academic Journal
Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations.
저자
by
Gatto, Antonio
;
Mariotti, Paolo
;
De Rose, Domenico Umberto
;
Curatola, Antonietta
;
Mancini, Giuseppina
, et al.
소스
Neurological Sciences
. Aug2020, Vol. 41 Issue 8, p2271-2274. 4p. 2 Black and White Photographs.
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7 . Academic Journal
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.
저자
by
Peron, Angela
;
Novara, Francesca
;
La Briola, Francesca
;
Merati, Elisabetta
;
Giannusa, Emanuela
, et al.
소스
American Journal of Medical Genetics. Part A; Apr2020, Vol. 182 Issue 4, p823-828, 6p
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7 . Academic Journal
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma.
저자
by
MARTINELLI, CAROLINA
;
GABRIELE, FABIO
;
MANAI, FEDERICO
;
CICCONE, ROBERTO
;
NOVARA, FRANCESCA
, et al.
소스
Cancer Genomics & Proteomics (1109-6535); Mar/Apr2020, Vol. 17 Issue 2, p117-130, 14p
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7 . Academic Journal
Blanchard e Summers: rivoluzione o conservazione? (Italian)
저자
by
CICCONE, ROBERTO
;
STIRATI, ANTONELLA
.
소스
Moneta e Credito; set2019, Vol. 72 Issue 287, p207-218, 12p
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4 . Academic Journal
α-Synuclein multiplication analysis in Italian familial Parkinson disease
저자
by
Sironi, Francesca
;
Trotta, Luca
;
Antonini, Angelo
;
Zini, Michela
;
Ciccone, Roberto
, et al.
소스
In
Parkinsonism and Related Disorders
2010 16(3):228-231
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