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1 . Academic Journal
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease
저자
by
Jessie Poquérusse
;
Melinda Nolan
;
David R. Thorburn
;
Johan L. K. Van Hove
;
Marisa W. Friederich
, et al.
소스
JIMD Reports, Vol 64, Iss 3, Pp 223-232 (2023)
Open Access (Wiley)
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7 . Academic Journal
Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer
저자
by
Whitney Whitford
;
Victoria Hawkins
;
Kriebashne S. Moodley
;
Matthew J. Grant
;
Klaus Lehnert
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Open Access (DOAJ)
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7 . Academic Journal
Loss of Drosophila Coq8 results in impaired survival, locomotor deficits and photoreceptor degeneration
저자
by
Angelia J. Hura
;
Hannah R. Hawley
;
Wei Jun Tan
;
Rebecca J. Penny
;
Jessie C. Jacobsen
, et al.
소스
Molecular Brain, Vol 15, Iss 1, Pp 1-4 (2022)
Open Access (BioMed Central)
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7 . Academic Journal
Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans
저자
by
Alexander T. Young
;
Kien N. Ly
;
Callum Wilson
;
Klaus Lehnert
;
Russell G. Snell
, et al.
소스
Disease Models & Mechanisms, Vol 11, Iss 11 (2018)
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7 . Academic Journal
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1
저자
by
Jessie C. Jacobsen
;
Emma Glamuzina
;
Juliet Taylor
;
Brendan Swan
;
Shona Handisides
, et al.
소스
Case Reports in Genetics, Vol 2015 (2015)
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7 .
Isolated nuclei from frozen tissue are the superior source for single cell RNA-seq compared with whole cells
저자
by
Andrew Jiang
;
Klaus Lehnert
;
Suzanne J. Reid
;
Renee R. Handley
;
Jessie C. Jacobsen
, et al.
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7 .
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability
저자
by
Whitney Whitford
;
Klaus Lehnert
;
Jessie C. Jacobsen
;
Salam Alburaiky
;
Russell G. Snell
, et al.
소스
Journal of Human Genetics
. 67:19-26
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7 .
Contaminating DNA in human saliva alters the detection of variants from whole genome sequencing
저자
by
Russell G. Snell
;
Jessie C. Jacobsen
;
Whitney Whitford
;
C. A. Samson
;
Klaus Lehnert
.
소스
Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Scientific Reports
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7 .
Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer
저자
by
Whitney Whitford
;
Victoria Hawkins
;
Kriebashne S. Moodley
;
Matthew J. Grant
;
Klaus Lehnert
, et al.
소스
Scientific reports
. 12(1)
Open Access (OpenAIRE)
Scopus
JCR 저널정보
요약보기
Export
E-Mail
EndNote
RefWorks
7 .
Optimised multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer
저자
by
Whitney Whitford
;
Kriebashne Moodley
;
Klaus Lehnert
;
Victoria Hawkins
;
Russell G. Snell
, et al.
소스
Open Access (OpenAIRE)
요약보기
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