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CiliopathiesA reference for clinicians

Ciliopathies: A reference for clinicians  

Thomas D. Kenny and Philip L. Beales (eds)

Print Publication Year: 
Sep 2013
Series: 
Other
Published Online: 
Oct 2013
eISBN: 
9780191763328
DOI: 
10.1093/med/9780199658763.001.0001
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training, Qualified, specialist, Nurse, Qualified Nurse
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199658763
The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. This resource provides a ... More
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
Genetics for Health Professionals in Cancer CareFrom Principles to Practice

Genetics for Health Professionals in Cancer Care: From Principles to Practice  

Chris Jacobs, Lorraine Robinson, and Patricia Webb (eds)

Print Publication Year: 
Aug 2014
Series: 
Other
Published Online: 
Oct 2014
eISBN: 
9780191784200
DOI: 
10.1093/med/9780199672844.001.0001
Career: 
Doctor, Undergraduate Doctor, Qualified, early specialism training, Qualified, late specialism training, Nurse, Qualified Nurse
Specialty: 
Radiology, Clinical Oncology, Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199672844
The role of genetics is becoming increasingly important in all aspects of healthcare and particularly in the field of cancer care. Genetics for Health Professionals in Cancer Care: From ... More
The History of a Genetic DiseaseDuchenne Muscular Dystrophy or Meryon's Disease

The History of a Genetic Disease: Duchenne Muscular Dystrophy or Meryon's Disease (2 ed.)  

Alan E. H. Emery and Marcia L. H. Emery

Print Publication Year: 
Feb 2011
Series: 
Oxford Medical Histories
Published Online: 
May 2013
eISBN: 
9780191768798
DOI: 
10.1093/med/9780199591473.001.0001
Career: 
Doctor, Undergraduate Doctor, Qualified, early specialism training, Qualified, late specialism training, Qualified, specialist, Nurse, Qualified Nurse
Specialty: 
History of Medicine, Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199591473
This resource traces the history of Duchenne Muscular Dystrophy in detail along with a commentary of Edward Meryon's research, which has led to our current understanding of the disease, ... More
Human Malformations and Related Anomalies

Human Malformations and Related Anomalies (3 ed.)  

Roger E. Stevenson, Judith G. Hall, David B. Everman, and Benjamin D. Solomon (eds)

Print Publication Year: 
Oct 2015
Series: 
Other
Published Online: 
Oct 2015
eISBN: 
9780199386055
DOI: 
10.1093/med/9780199386031.001.0001
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199386031
Malformations are found in 2%-3% of all infants born in the United States. An additional equal number of infants are later found to have malformations that were not obvious at birth. The ... 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
Oxford Handbook of Genetics

Oxford Handbook of Genetics  

Guy Bradley-Smith, Sally Hope, Helen V. Firth, and Jane A. Hurst

Print Publication Year: 
Dec 2009
Series: 
Oxford Medical Handbooks
Published Online: 
Aug 2010
eISBN: 
9780199598922
DOI: 
10.1093/med/9780199545360.001.1
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training
Specialty: 
Clinical Medicine, Clinical Genetics, Preclinical Medicine, Molecular Biology and Genetics
Item type: 
book
ISBN: 
9780199545360
An invaluable reference for the primary health care team and junior doctor in training, the Oxford Handbook of Genetics provides accessible information on specific genetic diseases, and ... 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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