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1 . Academic Journal
Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation
저자
by
Giada Cattelan
;
Laura Sophie Frommelt
;
Chiara Volani
;
Andrea Colliva
;
Giulio Ciucci
, et al.
소스
Stem Cell Research, Vol 71, Iss , Pp 103172- (2023)
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7 . Academic Journal
P616: Cell-based noninvasive prenatal screening for a comprehensive fetal genome profiling for pathogenic submicroscopic CNVs in circulating trophoblasts from maternal blood
저자
by
Anna Doffini
;
Claudio Forcato
;
Chiara Mangano
;
Debora Lattuada
;
Roberta Aversa
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100672- (2023)
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7 . Academic Journal
Generation and characterization of induced pluripotent stem cell (iPSC) lines of two asymptomatic individuals carrying a heterozygous exon 7 deletion in Parkin (PRKN) and two non-carriers from the same family
저자
by
Maria Paulina Castelo Rueda
;
Valentina Gilmozzi
;
Diana A. Riekschnitz
;
Marina Di Segni
;
Rosamaria Silipigni
, et al.
소스
Stem Cell Research, Vol 60, Iss , Pp 102692- (2022)
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7 . Academic Journal
Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson’s disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method
저자
by
Valentina Gilmozzi
;
Giovanna Gentile
;
Diana A. Riekschnitz
;
Claudia B. Volpato
;
Marina Di Segni
, et al.
소스
Stem Cell Research, Vol 60, Iss , Pp 102713- (2022)
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7 . Academic Journal
Incidental finding of APC deletion in a child: double trouble or double chance? – a case report
저자
by
Erica Rosina
;
Berardo Rinaldi
;
Rosamaria Silipigni
;
Luca Bergamaschi
;
Giovanna Gattuso
, et al.
소스
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-7 (2021)
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7 . Academic Journal
Generation and characterization of three human induced pluripotent stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three different individuals of the same family with arrhythmogenic cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs*12 mutation
저자
by
Viviana Meraviglia
;
Giada Cattelan
;
Marzia De Bortoli
;
Benedetta Maria Motta
;
Claudia Volpato
, et al.
소스
Stem Cell Research, Vol 55, Iss , Pp 102466- (2021)
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7 . Academic Journal
Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy
저자
by
Giacomo Monzio Compagnoni
;
Giulio Kleiner
;
Maura Samarani
;
Massimo Aureli
;
Gaia Faustini
, et al.
소스
Stem Cell Reports, Vol 11, Iss 5, Pp 1185-1198 (2018)
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7 . Academic Journal
Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50
저자
by
Benedetta Ermon
;
Claudia B. Volpato
;
Giada Cattelan
;
Rosamaria Silipigni
;
Marina Di Segni
, et al.
소스
Stem Cell Research, Vol 32, Iss , Pp 78-82 (2018)
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7 . Academic Journal
Unexpected phenotype in a frameshift mutation of PTCH1
저자
by
Benedetta Beltrami
;
Elisabetta Prada
;
Gianluca Tolva
;
Giulietta Scuvera
;
Rosamaria Silipigni
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
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7 . Academic Journal
Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKNgene
저자
by
Alessandra Zanon
;
Diana Riekschnitz
;
Michael von Troyer
;
Claudia Volpato
;
Anne Picard
, et al.
소스
Stem Cell Research, Vol 41, Iss , Pp - (2019)
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