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1 . Academic Journal
P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing
저자
by
Katharine Fooks
;
Lydia Vermeer
;
Elise Poole
;
Stephanie Luca
;
Riyana Babul-Hirji
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101780- (2024)
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7 . Academic Journal
P873: 'If you look for a problem, you’ll find one': A qualitative study to understand why parents/adult patients decline secondary findings
저자
by
Abigail Hansen
;
Stephanie Luca
;
Olivia Moran
;
Riyana Babul-Hirji
;
Joyce Yan
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101787- (2024)
Full Text (Clinical Key)
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7 . Academic Journal
The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy
저자
by
Robyn Whitney
;
Puneet Jain
;
Rajesh RamachandranNair
;
Kevin C. Jones
;
Hassan Kiani
, et al.
소스
Epilepsia Open, Vol 8, Iss 2, Pp 623-632 (2023)
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7 . Academic Journal
Anti–Valosin‐Containing Protein (VCP/p97) Autoantibodies in Inclusion Body Myositis and Other Inflammatory Myopathies
저자
by
Adam Amlani
;
May Y. Choi
;
Katherine A. Buhler
;
Marie Hudson
;
Mark Tarnopolsky
, et al.
소스
ACR Open Rheumatology, Vol 5, Iss 1, Pp 10-14 (2023)
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7 . Academic Journal
Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment
저자
by
Elisa Nigro
;
Eyal Grunebaum
;
Binita Kamath
;
Christoph Licht
;
Caroline Malcolmson
, et al.
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Frontiers in Neurology, Vol 14 (2023)
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7 . Academic Journal
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
저자
by
Lauren Brady
;
Mark Ballantyne
;
John Duck
;
Thomas Fisker
;
Ryan Kleefman
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 11, Iss 3, Pp n/a-n/a (2023)
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7 . Academic Journal
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
저자
by
Raman Kumar
;
Elizabeth Palmer
;
Alison E. Gardner
;
Renee Carroll
;
Siddharth Banka
, et al.
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Frontiers in Molecular Neuroscience, Vol 13 (2020)
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7 . Academic Journal
Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy
저자
by
Fady Hannah-Shmouni
;
Lauren MacNeil
;
Lauren Brady
;
Mats I. Nilsson
;
Mark Tarnopolsky
.
소스
Frontiers in Neurology, Vol 10 (2019)
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7 . Academic Journal
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
저자
by
Jessica L. Zambonin
;
Allison Bellomo
;
Hilla Ben-Pazi
;
David B. Everman
;
Lee M. Frazer
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
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7 . Academic Journal
Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds
저자
by
Ludovic Arandel
;
Micaela Polay Espinoza
;
Magdalena Matloka
;
Audrey Bazinet
;
Damily De Dea Diniz
, et al.
소스
Disease Models & Mechanisms, Vol 10, Iss 4, Pp 487-497 (2017)
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