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Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy (4 ed.)  

Alan E. H. Emery, Francesco Muntoni, and Rosaline C. M. Quinlivan

Print Publication Year: 
Mar 2015
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
May 2015
eISBN: 
9780191801761
DOI: 
10.1093/med/9780199681488.001.0001
Career: 
Doctor, Undergraduate Doctor, Qualified, early specialism training, Qualified, late specialism training, Qualified, specialist, Nurse, Qualified Nurse
Specialty: 
Clinical Medicine, Clinical Genetics, Paediatrics
Item type: 
book
ISBN: 
9780199681488
Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the ... More
Genetic Diseases of the Eye

Genetic Diseases of the Eye (2 ed.)  

Elias I Traboulsi, MD (ed.)

Print Publication Year: 
Jan 2012
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Oct 2012
eISBN: 
9780199975181
DOI: 
10.1093/med/9780195326147.001.0001
Career: 
Doctor, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics, Ophthalmology
Item type: 
book
ISBN: 
9780195326147
This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. Each chapter emphasizes the ... More
Genetics of Obesity Syndromes

Genetics of Obesity Syndromes  

Philip R. Beales, I. Sadaf Farooqi, and Stephen O'Rahilly

Print Publication Year: 
Jul 2009
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Oct 2012
eISBN: 
9780199975198
DOI: 
10.1093/med/9780195300161.001.0001
Career: 
Doctor, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics, Endocrinology and Diabetes
Item type: 
book
ISBN: 
9780195300161
This resource addresses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for ... More
Inborn Errors of MetabolismFrom Neonatal Screening to Metabolic Pathways

Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways  

Brendan Lee and Fernando Scaglia (eds)

Print Publication Year: 
Oct 2014
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Mar 2015
eISBN: 
9780199398508
DOI: 
10.1093/med/9780199797585.001.0001
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training, Researcher
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199797585
Works on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an ... More
A Short History of Medical Genetics

A Short History of Medical Genetics  

Peter S. Harper

Print Publication Year: 
Nov 2008
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Nov 2013
eISBN: 
9780199353088
DOI: 
10.1093/med/9780195187502.001.0001
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics, History of Medicine
Item type: 
book
ISBN: 
9780195187502
This resource presents a lively account of how our ideas and knowledge about human genetics have developed over the past century from the perspective of someone inside the field with a deep ... More

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