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1 .
A functional genomics screen identifying blood cell development genes in Drosophila by undergraduates participating in a course-based research experience
저자
by
Ryan Chan
;
Joshua P Hedtke
;
Michael T Chang
;
Kristen M Omi
;
Namrata Kakade
, et al.
소스
G3: Genes|Genomes|Genetics
Open Access (OpenAIRE)
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7 . Academic Journal
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
저자
by
Bowron, Ann
;
Honeychurch, Julie
;
Williams, Maggie
;
Tsai-Goodman, Beverley
;
Clayton, Nicol
, et al.
소스
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism
. March 2015 38(2):279-286
Web of Science
Scopus
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7 . Academic Journal
Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
저자
by
Bowron, Ann
;
Honeychurch, Julie
;
Williams, Maggie
;
Tsai-Goodman, Beverley
;
Clayton, Nicol
, et al.
소스
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism
. January 2016 39(1):151-151
Web of Science
Scopus
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7 . Academic Journal
VALIDATION AND UTILITY OF A NEW NGS ASSAY FOR FAMILIAL HYPERCHOLESTEROLAEMIA INCORPORATING 12 LDL-C-RAISING SNPS
저자
by
Honeychurch, Julie
;
Watson, E.
;
Hills, A.
;
Dean, P.
;
Woodward, G.
, et al.
소스
ATHEROSCLEROSIS
; DEC 2016, 255 pE6-pE7, 4p.
Full Text (Clinical Key)
Scopus
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7 .
210 Clinical Utility of Gene Panel and Clinical Exome Testing in Cardiac Disease
저자
by
Karen Low
;
Alan Donaldson
;
Mark Greenslade
;
Davies Joanne
;
Mary Gable
, et al.
소스
Heart
. 102:A139-A140
Full Text (BMJ Journals)
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7 . Academic Journal
THE CRITICAL IMPORTANCE OF SEGREGATION ANALYSIS IN THE MANAGEMENT OF PATIENTS AND THEIR FAMILIES WITH SUSPECTED FAMILIAL HYPERCHOLESTEROLAEMIA: 3 EXAMPLES FROM THE BRISTOL FH CLINIC
저자
by
Gritzmacher, Lisa
;
Bayly, G. R.
;
Williams, Maggie
;
Hills, Alison
;
Honeychurch, Julie
, et al.
소스
ATHEROSCLEROSIS
; DEC 2016, 255 pE2-pE3, 5p.
Full Text (Clinical Key)
Scopus
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7 .
The critical role of segregation analysis in determining the pathogenicity of variants of uncertain significance in patients with suspected familial hypercholesterolaemia
저자
by
L. Gritzmacher
;
Graham Bayly
;
Paul Downie
;
Maggie Williams
;
Julie Honeychurch
.
소스
Atherosclerosis
. 263:e226
Full Text (Clinical Key)
Web of Science
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7 .
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype
저자
by
Beverley Tsai-Goodman
;
Simon Heales
;
Shakeel A. Qureshi
;
Ann Bowron
;
Nicol Clayton
, et al.
소스
Journal of Inherited Metabolic Disease
Open Access (OpenAIRE)
Scopus
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7 .
4 years' cascade genetic testing for familial hypercholesterolaemia in England – Increased referrals and ascertainment
저자
by
Mahmoud Barbir
;
Carol Robinson
;
A. Hills
;
Melanie Watson
;
Julie Honeychurch
, et al.
소스
Atherosclerosis
. 255:3
Full Text (Clinical Key)
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7 . Academic Journal
The critical role of segregation analysis in determining the pathogenicity of variants of uncertain significance in patients with suspected familial hypercholesterolaemia
저자
by
Gritzmacher, Lisa
;
Bayly, Graham
;
Honeychurch, Julie
;
Williams, Maggie
;
Downie, Paul
.
소스
In
Atherosclerosis
August 2017 263:e226-e226
Full Text (ScienceDirect)
Full Text (Clinical Key)
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