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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
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
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
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
Phenotypic VariationExploration and Functional Genomics

Phenotypic Variation: Exploration and Functional Genomics  

Moyra Smith

Print Publication Year: 
Feb 2011
Series: 
Other
Published Online: 
Oct 2012
eISBN: 
9780199975211
DOI: 
10.1093/med/9780195379631.001.0001
Career: 
Doctor, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics, Pathology, Clinical Cytogenetics and Molecular Genetics
Item type: 
book
ISBN: 
9780195379631
The goal of this resource is to present steps in the pathways of exploration to connect genotype to phenotype and to consider how alterations in genomes impact disease. Topics reviewed ... More

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