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1

Progress in rare diseases research 2010-2016: an IRDiRC perspective

Dawkins, Hugh JS, Draghia-Akli, Ruxandra, Lasko, Paul, Lau, Lilian PL, Jonker, Anneliene H, Cutillo, Christine M, Rath, Ana, Boycott, Kym M, Baynam, Gareth, Lochmüller, Hanns, Kaufmann, Petra, Cam, Ya

Journal:

Clinical and Translational Science

Year:

2017

Language:

english

File:

PDF, 1.32 MB

english, 2017

2

Awakening Australia to Rare Diseases: Symposium report and preliminary outcomes

Hugh JS Dawkins, Caron M Molster, Leanne M Youngs, Peter C O’Leary

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 119 KB

english, 2011

3

Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: effects on health service use and lifestyle benefits

Mahede, Trinity, Davis, Geoff, Rutkay, April, Baxendale, Sarah, Sun, Wenxing, Dawkins, Hugh JS, Molster, Caron, Graham, Caroline E

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 737 KB

english, 2015

4

Predictors of growth and body composition in HIV-infected children beginning or changing antiretroviral therapy

CJ Chantry, JS Cervia, MD Hughes, C Alvero, J Hodge, P Borum, J Moye Jr., for the PACTG 1010 Team

Journal:

Year:

2010

Language:

english

File:

PDF, 239 KB

english, 2010

5

Assessment of shoulder pathology by dynamic ultrasound

Sonnabend DH, Hughes JS, Giuffre B., Farrell R.

Journal:

Journal of Shoulder and Elbow Surgery

Year:

1996

Language:

english

File:

PDF, 120 KB

english, 1996

6

Surgical release of post-traumatic stiff elbow

Hughes JS, DH Sonnabend

Journal:

Journal of Shoulder and Elbow Surgery

Year:

1996

Language:

english

File:

PDF, 120 KB

english, 1996

7

Factors associated with recent HIV testing among younger gay and bisexual men in New Zealand, 2006-2011

Lachowsky, Nathan J, Saxton, Peter JW, Dickson, Nigel P, Hughes, Anthony J, Summerlee, Alastair JS, Dewey, Cate E

Journal:

BMC Public Health

Year:

2014

Language:

english

File:

PDF, 236 KB

english, 2014

8

Role of international registries in enhancing the care of familial hypercholesterolaemia

Hammond, Emma, Watts, Gerald F, Rubinstein, Yaffa, Farid, Waleed, Livingston, Michael, Knowles, Joshua W, Lochmüller, Hanns, Bellgard, Matthew, Dawkins, Hugh JS

Journal:

International Journal of Evidence-Based Healthcare

Year:

2013

Language:

english

File:

PDF, 248 KB

english, 2013

9

Quantitative Systems Pharmacology Approaches Applied to Microphysiological Systems (MPS): Data Interpretation and Multi-MPS Integration

Yu, J, Cilfone, NA, Large, EM, Sarkar, U, Wishnok, JS, Tannenbaum, SR, Hughes, DJ, Lauffenburger, DA, Griffith, LG, Stokes, CL, Cirit, M

Journal:

CPT: Pharmacometrics & Systems Pharmacology

Year:

2015

Language:

english

File:

PDF, 1.91 MB

english, 2015

10

Anticardiolipin Antibody Levels in Diabetics with Coronary Artery Disease

Hendra, TJ, Harris, EN, Trembath, RC, Hughes, GRV, Yudkin, JS

Journal:

Clinical Science

Year:

1988

Language:

english

File:

PDF, 136 KB

english, 1988

11

Lower Aortic Compliance in Non-Diabetic Gujerati Survivors of Myocardial Infarction & Controls than in Matched White Men

Wright, JS, Cruickshank, JK, Hughes, LO, Kontis, S, Gosling, RG

Journal:

Clinical Science

Year:

1989

Language:

english

File:

PDF, 150 KB

english, 1989

12

DISCUSSION. DESIGN AND CONSTRUCTION OF EMBANKMENTS ON AN ALLUVIAL PLAIN.

DALLARD, NJ, COOK, D, HUGHES, FH, COMBRIDGE, BG, MURRAY, R, NUNDY, FS, AUSTIN, WFT, MCGOWN, A, HAWKINS, AB, PENMAN, ADM, VAUGHAN, PR, YOUNGER, JS

Journal:

ICE Proceedings

Year:

1972

Language:

english

File:

PDF, 777 KB

english, 1972

13

International Charter of principles for sharing bio-specimens and data

Mascalzoni, Deborah, Dove, Edward S, Rubinstein, Yaffa, Dawkins, Hugh JS, Kole, Anna, McCormack, Pauline, Woods, Simon, Riess, Olaf, Schaefer, Franz, Lochmüller, Hanns, Knoppers, Bartha M, Hansson, Ma

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 66 KB

english, 2016

14

A Web-Based Registry for Familial Hypercholesterolaemia

Napier, Kathryn R, Pang, Jing, Lamont, Leanne, Walker, Caroline E, Dawkins, Hugh JS, Hunter, Adam A, Bockxmeer, Frank M van, Watts, Gerald F, Bellgard, Matthew I

Journal:

Heart Lung & Circulation

Year:

2016

Language:

english

File:

PDF, 482 KB

english, 2016

15

‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

Lochmüller, Hanns, Le Cam, Yann, Jonker, Anneliene H, Lau, Lilian PL, Baynam, Gareth, Kaufmann, Petra, Lasko, Paul, Dawkins, Hugh JS, Austin, Christopher P, Boycott, Kym M

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 146 KB

english, 2017

16

A Novel Method for Studying the Pharmacokinetics of [ 14 C]Umeclidinium After Application to the Axilla or Palm of Healthy Male Subjects

Pene Dumitrescu, T, Santos, LL, Hughes, SC, Pereira, AI, Young, GC, Hussey, E, Charlton, P, Baptiste-Brown, S, Stuart, JS, Vincent, V, van Marle, SP, Schmith, VD

Journal:

Clinical and Translational Science

Year:

2016

Language:

english

File:

PDF, 714 KB

english, 2016

17

The doctors in training committee: a mechanism for change?

Minhas, JS, Bains, S, Hughes, A, Kirtley, J, Carr, S

Journal:

British Journal of Hospital Medicine

Year:

2017

Language:

english

File:

PDF, 348 KB

english, 2017

18

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

Lochmüller, Hanns, Torrent i Farnell, Josep, Le Cam, Yann, Jonker, Anneliene H, Lau, Lilian PL, Baynam, Gareth, Kaufmann, Petra, Dawkins, Hugh JS, Lasko, Paul, Austin, Christopher P, Boycott, Kym M

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 878 KB

english, 2017

19

Are Generic Health State Utility Instruments Sufficiently Sensitive To Capture Changes In Health-Related Quality of Life In Patients With Visual Disorders?

Buchanan-Hughes, AM, Evans, JS, Beale, RC, Tournier, C, Pope, L

Journal:

Value in Health

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

20

P181 Adherence to Treatment in Patients with Bronchiectasis Infected with Pseudomonas Aeruginosa

McCullough, A R, Hughes, CM, Tunney, M, Elborn, JS, Bradley, JM

Journal:

Year:

2012

Language:

english

File:

PDF, 574 KB

english, 2012

21

The strength of surgical repairs of the rotator cuff. A biomechanical study on cadavers

Sward, L, Hughes, JS, Amis, A, Wallace, WA

Journal:

Journal of Bone and Joint Surgery - British Volume

Year:

1992

Language:

english

File:

PDF, 604 KB

english, 1992

22

Posterior internal compression arthrodesis of the ankle

Sward, L, Hughes, JS, Howell, CJ, Colton, CL

Journal:

Journal of Bone and Joint Surgery - British Volume

Year:

1992

Language:

english

File:

PDF, 710 KB

english, 1992

23

[BMJ Publishing Group Ltd and British Thoracic Society British Thoracic Society Winter Meeting 2019, QEII Centre, Broad Sanctuary, Westminster, London SW1P 3EE, 4 to 6 December 2019, Programme and Abstracts - ()] The epidemiology and impact of difficult infections - M4âPseudomonas aeruginosa inhibits aspergillus fumigatus in vitro through multiple mechanisms, including pyoverdine production

Hughes, DA, Armstrong-James, D, Elborn, JS, Davies, JC

File:

PDF, 67 KB