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1 . Academic Journal
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder
저자
by
Milena M. Andzelm
;
Shanti Balasubramaniam
;
Edward Yang
;
Alison G. Compton
;
Kate Millington
, et al.
소스
JIMD Reports, Vol 63, Iss 5, Pp 391-399 (2022)
Open Access (Wiley)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies
저자
by
Lauren S. Akesson
;
Rocio Rius
;
Natasha J. Brown
;
Jeremy Rosenbaum
;
Sarah Donoghue
, et al.
소스
JIMD Reports, Vol 63, Iss 3, Pp 240-249 (2022)
Open Access (Wiley)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases
저자
by
Rocio Rius
;
Alison G. Compton
;
Naomi L. Baker
;
AnneMarie E. Welch
;
David Coman
, et al.
소스
Genes, Vol 12, Iss 4, p 607 (2021)
Open Access (DOAJ)
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants
저자
by
Rocio Rius
;
Nicole J. Van Bergen
;
Alison G. Compton
;
Lisa G. Riley
;
Maina P. Kava
, et al.
소스
Journal of Clinical Medicine, Vol 8, Iss 11, p 2020 (2019)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
A cryptic pathogenic
NDUFV1
variant identified by
RNA
‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
저자
by
Sharmila Kiss
;
John Christodoulou
;
David R. Thorburn
;
Jeremy L. Freeman
;
Andrew J. Kornberg
, et al.
소스
American Journal of Medical Genetics Part A
. 191:1599-1606
Web of Science
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JCR 저널정보
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7 .
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
저자
by
Shabnam Bakhshalizadeh
;
Daniella H. Hock
;
Nicole A. Siddall
;
Brianna L. Kline
;
Rajini Sreenivasan
, et al.
소스
Human Genetics
.
Open Access (OpenAIRE)
Scopus
JCR 저널정보
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7 .
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy
저자
by
Rocio Rius
;
Neal K. Bennett
;
Kaustuv Bhattacharya
;
Lisa G. Riley
;
Zafer Yüksel
, et al.
소스
Human Mutation
. 43:1970-1978
Open Access (OpenAIRE)
Web of Science
Scopus
JCR 저널정보
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7 .
Expansion of the clinical and neuroimaging spectrum associated with
NDUFS8
‐related disorder
저자
by
Milena M. Andzelm
;
Shanti Balasubramaniam
;
Edward Yang
;
Alison G. Compton
;
Kate Millington
, et al.
소스
JIMD Reports
. 63:391-399
Open Access (Wiley)
Open Access (OpenAIRE)
Scopus
요약보기
Export
E-Mail
EndNote
RefWorks
7 .
Quantifying constraint in the human mitochondrial genome
저자
by
Nicole J. Lake
;
Wei Liu
;
Stephanie L. Battle
;
Kristen M. Laricchia
;
Grace Tiao
, et al.
소스
요약보기
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EndNote
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7 .
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
저자
by
Simon Sadedin
;
Alison Yeung
;
Natasha J Brown
;
David S. Francis
;
Katrina M. Bell
, et al.
소스
J Med Genet
Full Text (BMJ Journals)
Open Access (OpenAIRE)
Web of Science
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