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1 . Academic Journal
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing
저자
by
Melissa C. Southey
;
James G. Dowty
;
Moeen Riaz
;
Jason A. Steen
;
Anne-Laure Renault
, et al.
소스
npj Breast Cancer, Vol 7, Iss 1, Pp 1-7 (2021)
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7 .
Supplementary Figure S1 from Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis
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by
Alvaro N.A. Monteiro
;
Paolo Radice
;
Fergus J. Couch
;
David Goldgar
;
Andrej Sali
, et al.
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7 .
Data from Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis
저자
by
Alvaro N.A. Monteiro
;
Paolo Radice
;
Fergus J. Couch
;
David Goldgar
;
Andrej Sali
, et al.
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Open Access (OpenAIRE)
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7 .
Abstract PS7-04: Population-based estimates of breast cancer risk for germline pathogenic variants identified by gene-panel testing: An Australian perspective
저자
by
Rebecca Harris
;
Scott Grist
;
Nicholas Pachter
;
Catherine Speechly
;
Fleur Hammet
, et al.
소스
Cancer Research
. 81:PS7-04
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7 . Academic Journal
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.
저자
by
Nic Waddell
;
Jyoti Jonnalagadda
;
Anna Marsh
;
Scott Grist
;
Mark Jenkins
, et al.
소스
Genes, Chromosomes & Cancer; Dec2006, Vol. 45 Issue 12, p1169-1181, 13p
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7 .
AB117. Rearranging workflow to improve turn-around time for genetic testing: doing more with less
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by
Rachel Hall
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Scott Grist
;
Janice M. Fletcher
;
Sharon Bain
.
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6 .
Abstracts for the 38th Human Genetics Society of Australasia Annual Scientific Meeting Adelaide, South Australia: August 3–6, 2014
저자
by
Rachel Hall
;
Scott Grist
;
Donna Cassetta
;
Lesley Snell
;
Kristy Nichol
, et al.
소스
Twin Research and Human Genetics
. 17:322-346
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7 .
Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis
저자
by
Katherine L. Nathanson
;
Edson Rondinelli
;
Andrej Sali
;
Rosane Silva
;
Marcelo A. Carvalho
, et al.
소스
Cancer Research
. 67:1494-1501
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7 .
Leigh Syndrome Caused by the MT-ND5 m.13513GA Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia
저자
by
Drago Bratkovic
;
David R. Thorburn
;
Malcolm Richardson
;
Scott Grist
;
Ajay Taranath
, et al.
소스
JIMD Reports ISBN: 9783662461891
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7 .
Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry
저자
by
Jamie E Craig
;
April Crawford
;
Alex W. Hewitt
;
Kathryn P. Burdon
;
Emmanuelle Souzeau
, et al.
소스
Ophthalmology
. 120(6)
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