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1 . Academic Journal
How many individuals with Familial Hypercholesterolaemia (FH) need to be identified to achieve the NHS 2019 Long Term Plan ambition?
저자
by
S.E. Humphries
;
J.Gratton
;
K. Haralambos
;
M. Futema
.
소스
Atherosclerosis Plus, Vol 54, Iss , Pp S3- (2023)
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6 . Academic Journal
Prevalence of familial hypercholesterolaemia (FH)-causing variants and impact on LDL-C concentration in European, South Asian, and African ancestry groups of the UK Biobank
저자
by
J. Gratton
;
S.E. Humphries
;
M. Futema
.
소스
Atherosclerosis Plus, Vol 54, Iss , Pp S3- (2023)
Full Text (Clinical Key)
Full Text (ScienceDirect)
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5 . Academic Journal
Posttranscriptional regulation of the LDL Receptor in humans by the U2-spliceosome and its interactors
저자
by
M. Futema
;
S.E. Humphries
;
P. Zanoni
;
G. Panteloglou
;
A. Othman
, et al.
소스
Atherosclerosis Plus, Vol 49, Iss , Pp S3- (2022)
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7 . Academic Journal
Modelling a two-stage screen for autosomal dominant familial hypercholesterolaemia (FH) in UK Biobank
저자
by
J. Gratton
;
S.E. Humphries
;
A.F. Schmidt
;
R. Patel
;
R. Sofat
, et al.
소스
Atherosclerosis Plus, Vol 49, Iss , Pp S5- (2022)
Full Text (Clinical Key)
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7 . Academic Journal
How many homozygous Familial Hypercholesterolaemia (FH) patients are there likely to be in the UK? : The FH phenotype caused by the APOB p.(Arg3527Trp) variant in a South Asian family
저자
by
I. Tracey
;
R.H. Fairoozy
;
M. Futema
;
E.A. Hughes
;
S.E. Humphries
.
소스
Atherosclerosis Plus, Vol 49, Iss , Pp S11- (2022)
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7 . Academic Journal
Identification of FH-causing variants in patients with clinical familial hypercholesterolaemia recruited into the 100,000 genome project: preliminary analysis
저자
by
A. Rimbert
;
M. Futema
;
M. Williams
;
E. Watson
;
S.E. Humphries
.
소스
Atherosclerosis Plus, Vol 43, Iss , Pp S4- (2021)
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7 . Academic Journal
The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population
저자
by
R. H. Fairoozy
;
M. Futema
;
R. Vakili
;
M. R. Abbaszadegan
;
S. Hosseini
, et al.
소스
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
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Web of Science
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7 .
Identification of FH-causing variants in patients with clinical familial hypercholesterolaemia recruited into the 100,000 genome project: preliminary analysis
저자
by
Antoine Rimbert
;
S.E. Humphries
;
E. Watson
;
M. Futema
;
Maggie Williams
.
소스
Atherosclerosis Plus, Vol 43, Iss, Pp S4-(2021)
Open Access (OpenAIRE)
Scopus
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RefWorks
7 .
The U2-spliceosome and its interactors regulate the levels and activity of the LDL receptor in humans
저자
by
Joost Weyler
;
Grigorios Panteloglou
;
B. Van De Sluis
;
Joel T. Haas
;
Anne Tybjærg-Hansen
, et al.
소스
Atherosclerosis
. 315:e15
Full Text (Clinical Key)
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7 .
A Case Report of a South Asian Family with Homozygous and Heterozygous Familial Defective APOB-100 Caused by p.(Arg3527Trp)
저자
by
M. Futema
;
Hughes Ea
;
R. H. Fairoozy
;
Inessa T
;
Steve E. Humphries
.
소스
Journal of Molecular and Genetic Medicine
. 11
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