Ros A. Whittall
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 12 publications
Analysis of mutations causing familial hypercholesterolaemia in black South African patients of different ancestr.
Journal: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
Published: January 30, 2017
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
Journal: Journal of medical genetics
Published: May 25, 2016
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
Journal: Metabolism: clinical and experimental
Published: April 01, 2015
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
Journal: Atherosclerosis
Published: February 21, 2015
Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.
Journal: Clinical chemistry
Published: November 22, 2014
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
Journal: Journal of medical genetics
Published: July 03, 2014
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
Journal: Lancet (London, England)
Published: February 26, 2013
Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.
Journal: Atherosclerosis
Published: January 31, 2013
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.
Journal: Journal of medical genetics
Published: October 12, 2012
The genetic spectrum of familial hypercholesterolemia in Pakistan.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: October 10, 2012
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.
Journal: Annals of human genetics
Published: August 14, 2012
Mutation detection in Croatian patients with familial hypercholesterolemia.
Journal: Annals of human genetics
Published: May 18, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026