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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
Epstein's Inborn Errors of DevelopmentThe Molecular Basis of Clinical Disorders of Morphogenesis

Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (3 ed.)  

Robert P. Erickson and Anthony J. Wynshaw-Boris (eds)

Print Publication Year: 
Jun 2016
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Jul 2016
eISBN: 
9780190213534
DOI: 
10.1093/med/9780199934522.001.0001
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199934522
Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has been identified. For each disorder, an analysis of the role of the ... More
Genomics and Health in the Developing World

Genomics and Health in the Developing World  

Dhavendra Kumar (ed.)

Print Publication Year: 
May 2012
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Feb 2014
eISBN: 
9780199392995
DOI: 
10.1093/med/9780195374759.001.0001
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780195374759
Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation - with particular emphasis on medical ... More
Huntington's Disease

Huntington's Disease  

Gillian Bates, Sarah Tabrizi, and Lesley Jones (eds)

Print Publication Year: 
Mar 2014
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Aug 2014
eISBN: 
9780199370481
DOI: 
10.1093/med/9780199929146.001.0001
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199929146
This fourth edition of Huntington's disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have ... 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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