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MJA

Medical genetics

Letters

A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY

Ramy H Bishay and Jerry R Greenfield

Med J Aust 2017; 207 (5): 223

Letters

A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY

Jeff R Flack, Glynis P Ross and N Wah Cheung

Med J Aust 2017; 207 (5): 223

Letters

Discrepancies in genetic testing results for coeliac disease: call for standardised testing and reporting

A James M Daveson, Michael Varney, Kate E Jackson and Jason A Tye-Din

Med J Aust 2017; 207 (4): 179-180

Medical education

How to measure a QT interval

Kathryn Waddell-Smith, Robert M Gow and Jonathan R Skinner

Med J Aust 2017; 207 (3): 107-110

Narrative reviews

A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY

Ramy H Bishay and Jerry R Greenfield

Med J Aust 2016; 205 (10): 480-485

Letters

Translating Aboriginal genomics — four letters Closing the Gap

Gareth S Baynam, Glenn Pearson and Jenefer Blackwell

Med J Aust 2016; 205 (8): 379 Free

Narrative review

Progress in the care of familial hypercholesterolaemia: 2016

Damon A Bell and Gerald F Watts

Med J Aust 2016; 205 (5): 232-236 Free

Short reports

Rising incidence of invasive meningococcal disease caused by Neisseria meningitidis serogroup W in Victoria

Katherine A Bond, Kerrie Stevens, Dieter Bulach, Kylie Carville, Katherine S Ong and Benjamin P Howden

Med J Aust 2016; 204 (7): 265-266

Clinical focus

Gene panel testing for hereditary breast cancer

Ingrid Winship and Melissa C Southey

Med J Aust 2016; 204 (5): 188-190 Free

Clinical focus

Novel insights, challenges and practical implications of DOHaD-omics research

Nicolette A Hodyl and Beverly Muhlhausler

Med J Aust 2016; 204 (3): 108-110

Short reports

A multidisciplinary renal genetics clinic improves patient diagnosis

Andrew Mallett, Lindsay F Fowles, Julie McGaughran, Helen Healy and Chirag Patel

Med J Aust 2016; 204 (2): 58-59

Research

The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine

Dominica Zentner, Tina N Thompson, Paul A James, Alison Trainer, Lesley C Adès, Ivan Macciocca, Jessica A Taylor, Kirsty Mann, Michael Bogwitz, Nigel Lewis, Natalie Morgan, Jitendra Vohra and Ingrid Winship

Med J Aust 2015; 203 (6): 261 Free

Perspectives

Precision medicine: are we there?

Ingrid Winship

Med J Aust 2015; 203 (3): 132-133

Case reports

First use of creatine hydrochloride in premanifest Huntington disease

Chris Tuckfield

Med J Aust 2015; 202 (7): 378-380 Free

Ethics and law

Disclosing genetic information to at-risk relatives: new Australian privacy principles, but uniformity still elusive

Margaret F A Otlowski

Med J Aust 2015; 202 (6): 335-337 Free

Letters

Newborn bloodspot screening: setting the Australian national policy agenda

Craig A White and Karla Lister

Med J Aust 2014; 201 (10): 577

Perspectives

The impact of genomics on the future of medicine and health

John S Mattick, Marie A Dziadek, Bronwyn N Terrill, Warren Kaplan, Allan D Spigelman, Frank G Bowling and Marcel E Dinger

Med J Aust 2014; 201 (1): 17-20 Free

Case reports

Skin rash, a kidney mass and a family mystery dating back to World War II

Christopher W Toon, Csilla Hasovits, Julie Paik, Michael Field, Angela Chou, Thomas J Hugh, Nicholas Pavlakis and Anthony J Gill

Med J Aust 2014; 201 (1): 58-60 Free

Letters

The utility of genetics in inherited cancer

Rosalie Schultz

Med J Aust 2014; 200 (7): 388-389

Letters

Population-based genetic carrier screening for cystic fibrosis in Victoria

Alison D Archibald, John Massie, Melanie J Smith, Deborah G Dalton, Desirée du Sart and David J Amor

Med J Aust 2014; 200 (4): 205-206

Perspectives

Newborn bloodspot screening: setting the Australian national policy agenda

Susannah J Maxwell and Peter O’Leary

Med J Aust 2014; 200 (3): 142-143

Perspectives

The Angelina Jolie effect

Paul A James, Gillian Mitchell, Michael Bogwitz and Geoffrey J Lindeman

Med J Aust 2013; 199 (10): 646

Research

Preventing breast and ovarian cancers in high-risk BRCA1 and BRCA2 mutation carriers

Ian M Collins, Roger L Milne, Prue C Weideman, Sue-Anne McLachlan, Michael L Friedlander, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, John L Hopper and Kelly-Anne Phillips

Med J Aust 2013; 199 (10): 680-683 Free

Reflections

The progress of molecular genetics

Peter C Doherty

Med J Aust 2013; 199 (3): 215

Editorials

Challenges of transition to adult health services for patients with rare diseases

Yvonne A Zurynski and Elizabeth J Elliott

Med J Aust 2013; 198 (11): 575-576