检索结果 - Ros Whittall
- Showing 1 - 12 results of 12
-
1
-
2
-
3
-
4
-
5
-
6
Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic 由 Marta Futema, Ros Whittall, Amy Kiley, Louisa K. Steel, Jackie A. Cooper, Ebele Badmus, S. E. A. Leigh, Fredrik Karpe, H. A. W. Neil, Steve E. Humphries
出版 2013Artigo -
7
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk 由 Steve E. Humphries, Ros Whittall, Christina Hubbart, S Maplebeck, Jackie Cooper, Anne K. Soutar, R.P. Naoumova, G. R. Thompson, Mary Seed, Paul N. Durrington, J. Philip Miller, D. J. Betteridge, H. A. W. Neil
出版 2006Carta -
8
Whole exome sequencing of familial hypercholesterolaemia patients negative for<i>LDLR</i>/<i>APOB</i>/<i>PCSK9</i>mutations 由 Marta Futema, Vincent Plagnol, KaWah Li, Ros Whittall, H. A. W. Neil, Mary Seed, Stefano Bertolini, S. Calandra, Olivier Descamps, Colin A. Graham, Robert A. Hegele, Fredrik Karpe, Ronen Durst, Eran Leitersdorf, Nicholas Lench, Devaki Nair, Handrean Soran, Frank M. van Bockxmeer, Steve E. Humphries
出版 2014Artigo -
9
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study 由 Philippa J. Talmud, Sonia Shah, Ros Whittall, Marta Futema, Philip Howard, Jackie A. Cooper, Seamus C. Harrison, KaWah Li, Fotios Drenos, Fredrik Karpe, H. A. W. Neil, Olivier Descamps, Claudia Langenberg, Nicholas Lench, Mika Kivimäki, John C. Whittaker, Aroon D. Hingorani, Meena Kumari, Steve E. Humphries
出版 2013Artigo -
10
Effects of Six <i>APOA5</i> Variants, Identified in Patients With Severe Hypertriglyceridemia, on In Vitro Lipoprotein Lipase Activity and Receptor Binding 由 B. Dorfmeister, Weiwei Zeng, Andrea Dichlberger, Solveig Nilsson, Frank G. Schaap, Jaroslav A. Hubáček, Martin Merkel, Jackie A. Cooper, Aivar Lõokene, W. Putt, Ros Whittall, P.J. Lee, Laurence Lins, N. Delsaux, Melchior C. Nierman, J.A. Kuivenhoven, J.J.P. Kastelein, Michal Vrablı́k, G. Olivecrona, Wolfgang J. Schneider, Jöerg Heeren, Steve E. Humphries, Philippa J. Talmud
出版 2008Artigo -
11
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 Sampl... 由 Marta Futema, Sonia Shah, Jackie Cooper, KaWah Li, Ros Whittall, Mahtab Sharifi, Olivia Goldberg, Euridiki Drogari, Vasiliki Mollaki, Albert Wiegman, Joep C. Defesche, Maria D’Agostino, Antonietta D’Angelo, Paolo Rubba, Giuliana Fortunato, Małgorzata Waluś‐Miarka, Robert A. Hegele, Mary A. Bamimore, Ronen Durst, Eran Leitersdorf, Monique Mulder, Jeanine E. Roeters van Lennep, Eric J.G. Sijbrands, John C. Whittaker, Philippa J. Talmud, Steve E. Humphries
出版 2014Artigo -
12
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms 由 Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard W. Dougherty, Ideke J.C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Képès, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, Saeed Al-Turki, Carl E. Anderson, Dinu Antony, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, Petr Danecek, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Christopher Joyce, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Francesco Muntoni, Stephen O’Rahilly, Alexandros Onoufriadis, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Ros Whittall, Kathy Williamson
出版 2016Artigo
相关主题
Biology
Cholesterol
Genetics
Gene
Internal medicine
Lipoprotein
Medicine
Endocrinology
LDL receptor
Apolipoprotein B
Mutation
Allele
PCSK9
Familial hypercholesterolemia
Gastroenterology
Genotype
Biochemistry
Computational biology
Allele frequency
Body mass index
Chemistry
Exome
Exome sequencing
Missense mutation
SNP
Single-nucleotide polymorphism
Triglyceride
Alternative medicine
Bioinformatics
Blood lipids