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1 . Academic Journal
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study
저자
by
Raviglione, Federico
;
Douzgou, Sofia
;
Scala, Marcello
;
Mingarelli, Alessia
;
D'Arrigo, Stefano
, et al.
소스
In
Seizure: European Journal of Epilepsy
May 2021 88:60-72
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7 . Academic Journal
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy
저자
by
Micale, Lucia
;
Morlino, Silvia
;
Biagini, Tommaso
;
Carbone, Annalucia
;
Fusco, Carmela
, et al.
소스
In
BBA - Molecular Basis of Disease
1 June 2020 1866(6)
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7 . Periodical
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAPvariant causing DEHMBA syndrome with severe sleep disorder
저자
by
Morlino, Silvia
;
Vaccaro, Lorenzo
;
Leone, Maria Pia
;
Nardella, Grazia
;
Bisceglia, Luigi
, et al.
소스
Journal of Human Genetics; June 2024, Vol. 69 Issue: 6 p287-290, 4p
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7 . Academic Journal
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
저자
by
Morlino, Silvia
;
Vaccaro, Lorenzo
;
Leone, Maria Pia
;
Nardella, Grazia
;
Bisceglia, Luigi
, et al.
소스
Journal of Human Genetics
. 69(6):287-290
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7 . Periodical
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKIalter molecular dynamics and may affect cell cycle
저자
by
Fusco, Carmela
;
Nardella, Grazia
;
Morlino, Silvia
;
Micale, Lucia
;
Tragni, Vincenzo
, et al.
소스
Journal of Human Genetics; January 2024, Vol. 69 Issue: 1 p53-58, 6p
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7 . Academic Journal
Placing joint hypermobility in context: traits, disorders and syndromes.
저자
by
Morlino, Silvia
;
Castori, Marco
.
소스
British Medical Bulletin; Sep2023, Vol. 147 Issue 1, p90-107, 18p
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4 . Academic Journal
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
저자
by
Fusco, Carmela
;
Nardella, Grazia
;
Morlino, Silvia
;
Micale, Lucia
;
Tragni, Vincenzo
, et al.
소스
Journal of Human Genetics
. 69(1):53-58
Web of Science
Scopus
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7 . Academic Journal
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
저자
by
Leone, Maria Pia
;
Morlino, Silvia
;
Nardella, Grazia
;
Pracella, Riccardo
;
Giachino, Daniela
, et al.
소스
Human Genetics
. Jun2023, Vol. 142 Issue 6, p785-808. 24p.
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7 . Academic Journal
Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.
저자
by
Micale, Lucia
;
Russo, Federica
;
Mascaro, Martina
;
Morlino, Silvia
;
Nardella, Grazia
, et al.
소스
Pediatric Research; Apr2023, Vol. 93 Issue 5, p1208-1215, 8p
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7 . Academic Journal
ESG and Financial Markets: Does Sustainable Finance Constitute a Revolution of the Logics of Financial Markets?
저자
by
Morlino, Silvia
.
소스
14 Int'l. In-House Counsel J. 7391 (2021) / International In-House Counsel Journal, Vol. 14, Issue 57 (Autumn 2021), pp. 7391-7400
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