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1 . Academic Journal
Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis
저자
by
Abbott, Michael
;
Ryan, Mandy
;
Hernández, Rodolfo
;
McKenzie, Lynda
;
Heidenreich, Sebastian
, et al.
소스
The European Journal of Health Economics
. :1-10
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7 . Academic Journal
Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
저자
by
Kerr, Shona M.
;
Cowan, Emma
;
Klaric, Lucija
;
Bell, Christine
;
O’Sullivan, Dawn
, et al.
소스
European Journal of Human Genetics
. 31(5):588-595
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7 . Academic Journal
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
저자
by
Borras, Silvia
;
Clark, Caroline
;
Dean, John
;
Miedzybrodzka, Zosia
;
Ross, Alison
, et al.
소스
In
Genetics in Medicine
February 2024 26(2)
Full Text (ScienceDirect)
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7 . Academic Journal
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing
저자
by
Hocking, Lynne J.
;
Andrews, Claire
;
Armstrong, Christine
;
Ansari, Morad
;
Baty, David
, et al.
소스
European Journal of Human Genetics
. 31(2):231-238
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7 . Academic Journal
Understanding how educational interventions improve treatment adherence in patients with familial hypercholesterolaemia: a systematic review
저자
by
Massey, Hannah
;
Jennings, Barbara
;
Miedzybrodzka, Zosia
.
소스
Journal of Community Genetics
. 14(1):5-15
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5 . Academic Journal
Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland
저자
by
Abbott, Michael
;
McKenzie, Lynda
;
Moran, Blanca Viridiana Guizar
;
Heidenreich, Sebastian
;
Hernández, Rodolfo
, et al.
소스
Journal of Community Genetics
. 13(5):487-501
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7 . Academic Journal
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service
저자
by
Maher, Eamonn R.
;
Adlard, Julian
;
Barwell, Julian
;
Brady, Angela F.
;
Brennan, Paul
, et al.
소스
British Journal of Cancer
. 126(9):1339-1345
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7 . Academic Journal
Feasibility and ethics of using data from the Scottish newborn blood spot archive for research
저자
by
Cunningham-Burley, Sarah
;
McCartney, Daniel L.
;
Campbell, Archie
;
Flaig, Robin
;
Orange, Clare E. L.
, et al.
소스
Communications Medicine
. 2(1)
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7 . Academic Journal
The known burden of Huntington disease in the North of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era
저자
by
Kounidas, Georgios
;
Cruickshank, Heather
;
Kastora, Stavroula
;
Sihlabela, Stella
;
Miedzybrodzka, Zosia
.
소스
Journal of Neurology
. 268(11):4170-4177
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7 . Academic Journal
Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity Stages
저자
by
Downie, Lorna
;
Jack, Roisin
;
Matheson, Kirsty
;
Miedzybrodzka, Zosia
;
Rae, Daniela
, et al.
소스
In
Value in Health
June 2019 22(6):712-720
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