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Atlas of X-Linked Intellectual Disability Syndromes

Atlas of X-Linked Intellectual Disability Syndromes (2 ed.)  

Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers

Print Publication Year: 
Nov 2011
Series: 
Other
Published Online: 
Oct 2012
eISBN: 
9780199975242
DOI: 
10.1093/med/9780199811793.001.0001
Career: 
Doctor, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199811793
The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive summary of the clinically distinctive disorders caused by genes on the X chromosome. Each syndrome is defined and ... More
Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling (4 ed.)  

R.J.M Gardner, Grant R Sutherland, and Lisa G. Shaffer

Print Publication Year: 
Nov 2011
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Oct 2012
eISBN: 
9780199975174
DOI: 
10.1093/med/9780195375336.001.0001
Career: 
Doctor, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780195375336
This new edition of Chromosome Abnormalities and Genetic Counseling is a thoroughly updated ands richly-illustrated resource, combining basic concepts of chromosomal analysis with practical ... More
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
Common Malformations

Common Malformations  

Lewis B. Holmes

Print Publication Year: 
Oct 2011
Series: 
Other
Published Online: 
Oct 2012
eISBN: 
9780199975167
DOI: 
10.1093/med/9780195136029.001.0001
Career: 
Doctor, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics, Paediatrics, Neonatology
Item type: 
book
ISBN: 
9780195136029
This extensively illustrated resource describes the most common malformations and draws from many sources the information needed for a full diagnostic evaluation and discussion of treatment ... 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
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 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
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
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

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