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3 research outputs found
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia
Author
A Gilles
A McKenna
+42Â more
A Taylor
A Taylor
A Taylor
AK Soutar
Anne K. Soutar
AS Wierzbicki
C Redin
Clare Neuwirth
D Goossens
D Marks
Dalia Kasperaviciute
E Link
E Usifo
Ellen R.A. Thomas
GR Abecasis
H Li
HK Jensen
I Tosi
Jana Vandrovcova
JC Defesche
Jennifer Biggs
JS Ware
Laurence Game
Michael Mueller
MM Motazacker
NJ Loman
P Dhawan
P Flicek
Penny J. Norsworthy
R Alonso
RA Wilke
RR Williams
S Hollants
Santosh S Atanur
Scientific Steering Committee on behalf of the Simon Broome Register Group
SE Leigh
T Walsh
Timothy J. Aitman
V Plagnol
WJ Chen
Yvonne Tan
ØL Holla
Publication venue
'Springer Science and Business Media LLC'
Publication date
01/12/2013
Field of study
Get PDF
Crossref
Edinburgh Research Explorer
King's Research Portal
In silico tools for splicing defect prediction: a survey from the viewpoint of end users
Author
BM Psaty
C Burge
+41Â more
C Houdayer
C Houdayer
CB Burge
D Baralle
ED Lynch
Eric Boerwinkle
FO Desmet
G Yeo
GS Wang
IB Rogozin
JC Théry
K Faber
KH Lim
KH Lim
L Cartegni
L Cartegni
L Cartegni
L Cartegni
L Eng
LT Chow
M Colombo
M Freund
M Krawczak
M Pertea
MB Shapiro
MG Reese
MP Vreeswijk
P Divina
R Breathnach
RI Dogan
S Brunak
S Lefebvre
S Schwartz
SM Berget
T Sterne-Weiler
TA Cooper
V Brendel
VK Nalla
Xiaoming Liu
Xueqiu Jian
ØL Holla
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease
Author
A Kong
A Kong
+65Â more
Anna Helgadottir
Asgeir Sigurdsson
Asmundur Oddsson
Audur Magnusdottir
B Devlin
C Trapnell
CJ Willer
D Takada
Daniel F. Gudbjartsson
DF Gudbjartsson
E Usifo
F Azizi
F Zhang
Fereidoun Azizi
Gudmar Thorleifsson
Gudmundur Eyjolfsson
Gudmundur Thorgeirsson
H Li
H Schunkert
Hannes Helgason
Henrik Vestergaard
Hilma Holm
HK Jensen
I V Kutyavin
Isleifur Olafsson
Jacqueline de Graaf
JFM Wetzels
JL Goldstein
JL Goldstein
JS Rana
Kari Stefansson
LA Lange
Lambertus A. Kiemeney
LD Ward
M Bourbon
MA Lehrman
MA Lehrman
Maryam S. Daneshpour
Mehdi Hedayati
MJ Varghese
Niels Grarup
Olof Sigurdardottir
Oluf Pedersen
P Linsel-Nitschke
Patrick Sulem
R Do
R Huijgen
RA Whittall
Ruth J F Loos
S Singh
Solveig Gretarsdottir
T Jørgensen
Thorunn Rafnar
Torben Hansen
Torben Jørgensen
U Styrkarsdottir
Unnur Thorsteinsdottir
V Emilsson
V Gudnason
V Steinthorsdottir
Valgerdur Steinthorsdottir
W McLaren
WR Lagor
YS Aulchenko
ØL Holla
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref