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1 . Academic Journal
Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene
저자
by
Joshua S. Clayton
;
Christina Vo
;
Jordan Crane
;
Carolin K. Scriba
;
Safaa Saker
, et al.
소스
Stem Cell Research, Vol 77, Iss , Pp 103411- (2024)
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7 . Academic Journal
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene
저자
by
Joshua S. Clayton
;
Christina Vo
;
Jordan Crane
;
Carolin K. Scriba
;
Safaa Saker
, et al.
소스
Stem Cell Research, Vol 77, Iss , Pp 103410- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editing
저자
by
Peter J. Houweling
;
Vanessa Crossman
;
Chrystal F. Tiong
;
Chantal A. Coles
;
Rhonda L. Taylor
, et al.
소스
Stem Cell Research, Vol 75, Iss , Pp 103313- (2024)
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7 . Academic Journal
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene
저자
by
Karrison Driver
;
Christina Vo
;
Carolin K. Scriba
;
Safaa Saker
;
Thierry Larmonier
, et al.
소스
Stem Cell Research, Vol 73, Iss , Pp 103258- (2023)
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7 . Academic Journal
Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel
저자
by
Hayley Goullée
;
Rhonda L. Taylor
;
Alistair R. R. Forrest
;
Nigel G. Laing
;
Gianina Ravenscroft
, et al.
소스
Skeletal Muscle, Vol 11, Iss 1, Pp 1-13 (2021)
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7 . Academic Journal
Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene
저자
by
Joshua S. Clayton
;
Isabella Suleski
;
Christina Vo
;
Robert Smith
;
Carolin K. Scriba
, et al.
소스
Stem Cell Research, Vol 63, Iss , Pp 102829- (2022)
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7 . Academic Journal
Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene
저자
by
Isabella S. Suleski
;
Robert Smith
;
Christina Vo
;
Carolin K. Scriba
;
Safaa Saker
, et al.
소스
Stem Cell Research, Vol 63, Iss , Pp 102830- (2022)
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Full Text (ScienceDirect O/A)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Regulatory Architecture of the RCA Gene Cluster Captures an Intragenic TAD Boundary, CTCF-Mediated Chromatin Looping and a Long-Range Intergenic Enhancer
저자
by
Jessica Cheng
;
Joshua S. Clayton
;
Rafael D. Acemel
;
Ye Zheng
;
Rhonda L. Taylor
, et al.
소스
Frontiers in Immunology, Vol 13 (2022)
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7 . Academic Journal
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
저자
by
Joshua S. Clayton
;
Elyshia L. McNamara
;
Hayley Goullee
;
Stefan Conijn
;
Keren Muthsam
, et al.
소스
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-14 (2020)
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7 . Academic Journal
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
저자
by
Jenni M. Laitila
;
Elyshia L. McNamara
;
Catherine D. Wingate
;
Hayley Goullee
;
Jacob A. Ross
, et al.
소스
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-19 (2020)
Open Access (BioMed Central)
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