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1 . Academic Journal
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
저자
by
Rachel Austin
;
Jaye S. Brown
;
Sarah Casauria
;
Evanthia O. Madelli
;
Tessa Mattiske
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma
저자
by
Nicole J. Van Bergen
;
Karen Gunanayagam
;
Adam M. Bournazos
;
Adhish S. Walvekar
;
Marc O. Warmoes
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 4, p 3582 (2023)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation
저자
by
Alison D. Archibald
;
Belinda J. McClaren
;
Jade Caruana
;
Erin Tutty
;
Emily A. King
, et al.
소스
Journal of Personalized Medicine, Vol 12, Iss 11, p 1781 (2022)
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7 . Academic Journal
Genetic Kidney Disease in Southern Tasmania
저자
by
Gabrielle Brailsford
;
Ellie Cash
;
Jo Burke
;
Geoff Kirkland
;
Mathew Wallis
, et al.
소스
Kidney International Reports, Vol 5, Iss 4, Pp 534-537 (2020)
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7 . Academic Journal
Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy
저자
by
Jay Ramchand
;
Mathew Wallis
;
Ivan Macciocca
;
Elly Lynch
;
Omar Farouque
, et al.
소스
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 2 (2020)
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7 . Academic Journal
Loss of TOP3B leads to increased R-loop formation and genome instability
저자
by
Tao Zhang
;
Mathew Wallis
;
Vida Petrovic
;
Jackie Challis
;
Paul Kalitsis
, et al.
소스
Open Biology, Vol 9, Iss 12 (2019)
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7 .
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
저자
by
Peer Arts
;
Anne O'Donnell-Luria
;
David Lawrence
;
Hamish Scott
;
Ali Moghimi
, et al.
소스
Nature Medicine
. 29:180-189
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7 .
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
저자
by
Antony Kaspi
;
Michael S. Hildebrand
;
Victoria E. Jackson
;
Ruth Braden
;
Olivia van Reyk
, et al.
소스
Molecular Psychiatry, 28, 4, pp. 1664-1666
Molecular Psychiatry, 28, 1664-1666
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7 .
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
저자
by
Antony Kaspi
;
Michael S. Hildebrand
;
Victoria E. Jackson
;
Ruth Braden
;
Olivia van Reyk
, et al.
소스
Molecular Psychiatry, 28, 4, pp. 1647-1663
Molecular Psychiatry. Advance online publication
Molecular Psychiatry, 28, 1647-1663
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Scopus
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7 .
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
저자
by
Zimeng Ye
;
Sufang Lin
;
Xia Zhao
;
Mark F. Bennett
;
Natasha J. Brown
, et al.
소스
Human mutationREFERENCES
. 43(12)
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