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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
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
Psychiatric GeneticsA Primer for Clinical and Basic Scientists

Psychiatric Genetics: A Primer for Clinical and Basic Scientists  

Thomas Schulze and Francis McMahon (eds)

Print Publication Year: 
Apr 2018
Series: 
Other
Published Online: 
May 2018
eISBN: 
9780190221980
DOI: 
10.1093/med/9780190221973.001.0001
Career: 
Doctor, Qualified, specialist, Researcher
Specialty: 
Psychiatry, Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780190221973
Psychiatric Genetics: A Primer for Clinical and Basic Scientists provides a straightforward introduction to the essentials of psychiatric genetics, complementing available comprehensive ... More
Rethinking ReprogeneticsEnhancing Ethical Analyses of Reprogenetic Technologies

Rethinking Reprogenetics: Enhancing Ethical Analyses of Reprogenetic Technologies  

Inmaculada de Melo-Martin

Print Publication Year: 
Oct 2016
Series: 
Other
Published Online: 
Nov 2016
eISBN: 
9780190460235
DOI: 
10.1093/med/9780190460204.001.0001
Career: 
Doctor, Qualified, early specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780190460204
Reprogenetic technologies, which combine the power of reproductive techniques with the tools of genetic science and technology, promise prospective parents a remarkable degree of control to ... More

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