Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Diane Beattie"'
Autor:
Michal Shteinberg, Damian G. Downey, Diane Beattie, John McCaughan, Alastair Reid, Nili Stein, J. Stuart Elborn
Publikováno v:
ERJ Open Research, Vol 3, Iss 1 (2017)
Expression of p.Arg117His cystic fibrosis (CF) transmembrane conductance regulator is influenced by a polythymidine (poly-T) tract and a thymidine–guanine (TG) repeat on intron 9, which vary in length and affect exon 10 skipping. We compared clinic
Externí odkaz:
https://doaj.org/article/81e203446653492189c1a12c7c9cca8c
Publikováno v:
Mental Health Review Journal. 24:171-182
Purpose The purpose of this paper, a qualitative study, is to explore service users’ experiences of attending clinical psychology within a public community adult mental health service. Design/methodology/approach Six individuals who had completed a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2eca9783e3a4519c1caa8139edc86f6b
https://doi.org/10.1108/mhrj-02-2018-0005
https://doi.org/10.1108/mhrj-02-2018-0005
Autor:
Nili Stein, Damian G. Downey, J. McCaughan, J. Stuart Elborn, Michal Shteinberg, Alastair Reid, Diane Beattie
Publikováno v:
ERJ Open Research
ERJ Open Research, Vol 3, Iss 1 (2017)
Shteinberg, M, Downey, D G, Beattie, D, McCaughan, J, Reid, A, Stein, N & Elborn, J S 2017, ' Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His ', ERJ Open Research, vol. 3, no. 1, 00056-2016 . https://doi.org/10.1183/23120541.00056-2016
ERJ Open Research, Vol 3, Iss 1 (2017)
Shteinberg, M, Downey, D G, Beattie, D, McCaughan, J, Reid, A, Stein, N & Elborn, J S 2017, ' Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His ', ERJ Open Research, vol. 3, no. 1, 00056-2016 . https://doi.org/10.1183/23120541.00056-2016
Expression of p.Arg117His cystic fibrosis (CF) transmembrane conductance regulator is influenced by a polythymidine (poly-T) tract and a thymidine–guanine (TG) repeat on intron 9, which vary in length and affect exon 10 skipping. We compared clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bc368eb4c005dbbda35f6a9d1097457
http://europepmc.org/articles/PMC5566269
http://europepmc.org/articles/PMC5566269
Autor:
E. McClean, Sonya Martin, D. Paul Nicholls, Alana J.M. Ward, Ian S. Young, E. Diane Beattie, M.J. O'Kane, Colin A. Graham
Publikováno v:
Atherosclerosis. 147:309-316
The aim of this study was to develop a mutation screening protocol for familial hypercholesterolaemia (FH) patients and to assess genotype/phenotype effects in terms of pre-treatment lipid profiles and presentation of tendon xanthomata (TX). A total
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24d73029381550e96ba0fe769a721d64
https://doi.org/10.1016/s0021-9150(99)00201-4
https://doi.org/10.1016/s0021-9150(99)00201-4
Autor:
Diane Beattie
Publikováno v:
The Reference Librarian. 26:83-94
This paper examines ways to improve traditional archival descriptive tools in order to provide access to “hidden groups” such as blacks, women, ethnic and cultural minorities, aboriginal, poor, and working people. It argues that traditional prove
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e576b9927e0d2e62ac3c5e23745d8f67
https://doi.org/10.1300/j120v26n56_07
https://doi.org/10.1300/j120v26n56_07
Autor:
Ian S. Young, C W Kirk, Kelly Lyttle, Padraig Hart, R. Dermot G. Neely, E. Diane Beattie, D. Paul Nicholls, Colin A. Graham, Brian P. McIlhatton
Publikováno v:
Atherosclerosis. 182(2)
Familial hypercholesterolemia (FH) is a common single gene disorder, which predisposes to coronary artery disease. In a previous study, we have shown that in patients with definite FH around 20% had no identifiable gene defect after screening the ent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a9eb0185c969e02825163f83d884d67
https://pubmed.ncbi.nlm.nih.gov/16159606
https://pubmed.ncbi.nlm.nih.gov/16159606
Autor:
David T. Croke, Giorgio Bertorelle, Valentino Romano, Eileen P. Treacy, Colin A. Graham, Charles O'Neill, Philip Mayne, Johannes Zschocke, Eva Hrabincová, Monika Jurkowska, Magdalena Ugarte, Susan Byck, Charles R. Scriver, Cezary Zekanowski, Per M. Knappskog, Per Guldberg, E. R. Naughten, Francesco Calì, Lourdes R. Desviat, Orna Tighe, Donncha Dunican, Vaidutis Kučinskas, Belén Pérez, Ludmilla A. Livshits, Diane Beattie, L. A. Tyfield, Libor Kozák, Marina Nechyporenko
The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in the human phenylalanine hydroxylase (PAH) locus and is associated with two major PAH haplotypes. R408W-2.3 exhibits a west-to-east cline of relative frequency reaching i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b139c405a9f3463bd1d299deeca4f7
http://hdl.handle.net/11392/518602
http://hdl.handle.net/11392/518602
Autor:
Orna Tighe, Donncha Dunican, Charles O'Neill, Giorgio Bertorelle, Diane Beattie, Colin Graham, Johannes Zschocke, Francesco Cali, Valentino Romano, Eva Hrabincova, Libor Kozak, Marina Nechyporenko, Ludmilla Livshits, Per Guldberg, Monika Jurkowska, Cezary Zekanowski, Belen Perez, Lourdes Ruiz Desviat, Magdalena Ugarte, Vaidutis Ku?inskas
Publikováno v:
Human Mutation; Apr2003, Vol. 21 Issue 4, p387-393, 7p