X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (34) 34
humans (33) 33
male (18) 18
female (17) 17
hypercholesterolemia (17) 17
mutation (17) 17
diagnosis (16) 16
genetic aspects (15) 15
hyperlipoproteinemia type ii - genetics (15) 15
adult (13) 13
middle aged (12) 12
mutations (12) 12
alleles (11) 11
genetic variation (10) 10
genetics & heredity (10) 10
multidisciplinary sciences (10) 10
receptors, ldl - genetics (10) 10
article (9) 9
child (9) 9
familial hypercholesterolemia (9) 9
low density lipoproteins (9) 9
population (9) 9
lipids (8) 8
research (8) 8
risk (8) 8
cholesterol (7) 7
disease (7) 7
hyperlipoproteinemia type ii - diagnosis (7) 7
pedigree (7) 7
peripheral vascular disease (7) 7
united kingdom (7) 7
adolescent (6) 6
aged (6) 6
analysis (6) 6
animals (6) 6
apolipoproteins b - genetics (6) 6
atherosclerosis (6) 6
cardiac & cardiovascular systems (6) 6
cholesterol, ldl - genetics (6) 6
coronary-heart-disease (6) 6
health aspects (6) 6
identification (6) 6
phenotype (6) 6
young adult (6) 6
cholesterol, ldl - blood (5) 5
cohort studies (5) 5
coronary heart disease (5) 5
dna mutational analysis (5) 5
exome (5) 5
gene frequency (5) 5
genetic research (5) 5
genetics (5) 5
genome-wide association study (5) 5
hek293 cells (5) 5
hyperlipoproteinemia type ii - blood (5) 5
mice (5) 5
polymorphism, single nucleotide (5) 5
proprotein convertase 9 (5) 5
proprotein convertases - genetics (5) 5
serine endopeptidases - genetics (5) 5
1506 (4) 4
cardiology (4) 4
cardiovascular (4) 4
diagnostics (4) 4
familial hypercholesterolaemia (4) 4
gene (4) 4
gene mutations (4) 4
genetic association studies (4) 4
genetic predisposition to disease (4) 4
genome, human (4) 4
genomes (4) 4
genomics (4) 4
heterozygote (4) 4
molecular genetics (4) 4
multifactorial inheritance (4) 4
mutation - genetics (4) 4
score (4) 4
spectrum (4) 4
3111 biomedicine (3) 3
aged, 80 and over (3) 3
apolipoprotein b-100 - genetics (3) 3
autosomal-dominant hypercholesterolemia (3) 3
biochemistry & molecular biology (3) 3
cardiovascular disease (3) 3
case-control studies (3) 3
causes of (3) 3
children (3) 3
common (3) 3
defects (3) 3
dk/atira/pure/researchoutput/pubmedpublicationtype/d016428 (3) 3
endocrinology & metabolism (3) 3
genes (3) 3
genetic screening (3) 3
guidelines (3) 3
haplotypes (3) 3
heart (3) 3
individuals (3) 3
journal article (3) 3
ldl-cholesterol (3) 3
lipid-levels (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
New England Journal of Medicine, ISSN 0028-4793, 02/2017, Volume 376, Issue 5, p. 499
Journal Article
Clinical chemistry, ISSN 0009-9147, 2015, Volume 61, Issue 1, pp. 231 - 238
Journal Article
Journal Article
Atherosclerosis, ISSN 0021-9150, 08/2017, Volume 263, pp. e99 - e100
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2018, Volume 26, Issue 9, pp. 1312 - 1318
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited heart-muscle disorder, which is the most common cause of life-threatening... 
DIAGNOSIS | PENETRANCE | MANAGEMENT | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | DYSPLASIA | UPDATE | MUTATIONS | PATHOLOGY | DYSPLASIA/CARDIOMYOPATHY | Genetic variance | Databases | Gene frequency | Cardiac muscle | Cardiomyopathy | Genomes | Ventricle | Data bases
Journal Article
Journal Article
by Walter, Klaudia and Min, Josine L and Huang, Jie and Crooks, Lucy and Memari, Yasin and McCarthy, Shane and Perry, John and Xu, Changjiang and Futema, Marta and Lawson, Daniel and Iotchkova, Valentina and Schiffels, Stephan and Henicks, Auey E and Danecek, Petr and Li, Rui and Floyd, James and Wain, Louise and Barroso, Inês and Humphries, Steve and Hurles, Matthew and Zeggini, Eleftheria and Barrett, Jeffrey C and Plagnol, Vincent and Richards, Brent and Greenwood, Celia and Timpson, Nicholas and Durbin, Richard and Bala, Senduran and Clapham, Peter and Coates, Guy and Cox, Tony and Daly, Allan and Du, Yuanping and Edkins, Ted and Ellis, Peter and Flicek, Paul and Guo, Xiaosen and Guo, Xueqin and Huang, Liren and Jackson, David K and Joyce, Chris and Keane, Thomas and Kolb-Kokocinski, Anja and Langford, Cordelia and Li, Yingrui and Liang, Jieqin and Lin, Hong and Liu, Ryan and Maslen, John and Muddyman, Dawn and Quail, Michael A and Stalker, Jim and Sun, Jianping and Tian, Jing and Wang, Guangbiao and Wang, Jun and Wang, Yu and Wong, Kim and Zhang, Pingbo and Birney, Ewan and Boustred, Chris and Chen, Lu and Clement, Gail and Cocca, Massimiliano and Smith, G.D and Day, Ian N.M and Day-Williams, Aaron and Down, Thomas and Dunham, David and Evans, David M and Gaunt, Tom and Geihs, Matthias and Hart, Deborah and Howie, Bryan and Hubbard, Tim and Hysi, Pirro and Jamshidi, Yalda and Karczewski, Konrad and Kemp, John and Lachance, Genevieve and Lek, Monkol and Lopes, Margarida and MacArthur, Daniel G and Marchini, Jonathan and Mangino, Massimo and Mathieson, Iain and Metrustry, Sarah and Moayyeri, Alireza and Northstone, Kate and Panoutsopoulou, Kalliope and Paternoster, Lavinia and Quaye, Lydia and Ring, Susan and Ritchie, Graham R.S and Shihab, Hashem A and Shin, So-Youn and Small, Kerrin and Artigas, M.S and Soranzo, Nicole and Southam, Lorraine and ... and UCLEB Consortium and UK10K Consortium and The UK10K Consortium
Nature: international weekly journal of science, ISSN 0028-0836, 10/2015, Volume 526, Issue 7571, pp. 82 - 89
Journal Article
Current Opinion in Lipidology, ISSN 0957-9672, 2014, Volume 25, Issue 4, pp. 274 - 281
Journal Article
by Timpson, Nicholas J and Walter, Klaudia and Min, Josine L and Tachmazidou, Ioanna and Malerba, Giovanni and Shin, So-Youn and Chen, Lu and Futema, Marta and Southam, Lorraine and Iotchkova, Valentina and Cocca, Massimiliano and Huang, Jie and Memari, Yasin and McCarthy, Shane and Danecek, Petr and Muddyman, Dawn and Mangino, Massimo and Menni, Cristina and Perry, John R.B and Ring, Susan M and Gaye, Amadou and Dedoussis, George and Farmaki, Aliki-Eleni and Burton, Paul and Talmud, Philippa J and Gambaro, Giovanni and Spector, Tim D and Smith, George Davey and Durbin, Richard and Richards, J Brent and Humphries, Steve E and Zeggini, Eleftheria and Soranzo, Nicole and Turki, Saeed Al and Anderson, Carl and Anney, Richard and Antony, Dinu and Artigas, Maria Soler and Ayub, Muhammad and Balasubramaniam, Senduran and Barrett, Jeffrey C and Barroso, Iněs and Beales, Phil and Bentham, Jamie and Bhattacharya, Shoumo and Birney, Ewan and Blackwood, Douglas and Bobrow, Martin and Bochukova, Elena and Bolton, Patrick and Bounds, Rebecca and Boustred, Chris and Breen, Gerome and Calissano, Mattia and Carss, Keren and Chatterjee, Krishna and Ciampi, Antonio and Cirak, Sebhattin and Clapham, Peter and Clement, Gail and Coates, Guy and Collier, David and Cosgrove, Catherine and Cox, Tony and Craddock, Nick and Crooks, Lucy and Curran, Sarah and Curtis, David and Daly, Allan and Day-Williams, Aaron and Day, Ian N.M and Down, Thomas and Du, Yuanping and Dunham, Ian and Edkins, Sarah and Ellis, Peter and Evans, David and Faroogi, Sadaf and Fatemifar, Ghazaleh and Fitzpatrick, David R and Flicek, Paul and Flyod, James and Foley, A. Reghan and Franklin, Christopher S and Gallagher, Louise and Gaunt, Tom and Geihs, Matthias and Geschwind, Daniel and Greenwood, Celia and Griffin, Heather and Grozeva, Detelina and Guo, Xueqin and Guo, Xiaosen and Gurling, Hugh and Hart, Deborah and Hendricks, Audrey and Holmans, Peter and Howie, Bryan and Huang, Liren and Hubbard, Tim and ... and UK10K Consortium and UK1OK Consortium Members and UK1OK consortium members
Nature Communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, p. 4871
Journal Article