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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
The Bedside Dysmorphologist

The Bedside Dysmorphologist (2 ed.)  

William Reardon

Print Publication Year: 
Oct 2015
Series: 
Other
Published Online: 
Sep 2015
eISBN: 
9780190496142
DOI: 
10.1093/med/9780199970889.001.0001
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics, Paediatrics, Neonatology
Item type: 
book
ISBN: 
9780199970889
The Bedside Dysmorphologist is a thoughtful clinical guide to common--and often quite subtle--congenital malformations in clinical exam. Organized by area of the body, each section provides ... More
Bone DysplasiasAn Atlas of Genetic Disorders of Skeletal Development

Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development (4 ed.)  

Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger

Print Publication Year: 
Oct 2018
Series: 
Other
Published Online: 
Nov 2018
eISBN: 
9780190626679
DOI: 
10.1093/med/9780190626655.001.0001
Career: 
Doctor
Specialty: 
Clinical Medicine, Rheumatology, Clinical Genetics
Item type: 
book
ISBN: 
9780190626655
This is a unique atlas presenting age-related radiographs on more than 250 rare constitutional skeletal diseases (dysplasias, dysostoses, osteolyses, disorders of bone density, and more) ... 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
The Drama of DNA: Narrative Genomics

The Drama of DNA: Narrative Genomics  

Karen H. Rothenberg and Lynn Wein Bush

Print Publication Year: 
Mar 2014
Series: 
Other
Published Online: 
Mar 2015
eISBN: 
9780199373161
DOI: 
10.1093/med/9780199309351.001.0001
Career: 
Doctor, Undergraduate Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199309351
Through the use of dramatic narratives, The Drama of DNA brings to life the complexities raised by the application of genomic technologies to health care and diagnosis. This creative, ... More
Ethical Dilemmas in Genetics and Genetic CounselingPrinciples through Case Scenarios

Ethical Dilemmas in Genetics and Genetic Counseling: Principles through Case Scenarios  

Janice Berliner (ed.)

Print Publication Year: 
Sep 2014
Series: 
Other
Published Online: 
Mar 2015
eISBN: 
9780190206659
DOI: 
10.1093/med/9780199944897.001.0001
Career: 
Allied Health Professional, Qualified AHP, Researcher, Trainee AHP
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199944897
Knowledge of the genetic basis of human diseases is growing rapidly, with important implications for pre-conception, prenatal, and predictive testing. While new genetic testing offers ... More
Females Are MosaicsX Inactivation and Sex Differences in Disease

Females Are Mosaics: X Inactivation and Sex Differences in Disease  

Barbara Migeon

Print Publication Year: 
Oct 2013
Series: 
Other
Published Online: 
Feb 2014
eISBN: 
9780199343669
DOI: 
10.1093/med/9780199927531.001.0001
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199927531
Women can be described as genetic mosaics because they have two distinctly different types of cells throughout their bodies. Unlike males, who have one X chromosome, females have two X ... More
Genetic Consultations in the Newborn

Genetic Consultations in the Newborn  

Robin D. Clark and Cynthia J. Curry

Print Publication Year: 
Jan 2019
Series: 
Other
Published Online: 
Feb 2019
eISBN: 
9780190916503
DOI: 
10.1093/med/9780199990993.001.0001
Career: 
Doctor
Specialty: 
Clinical Medicine, Clinical Genetics, Paediatrics
Item type: 
book
ISBN: 
9780199990993
This book was written to assist clinicians who care for newborns with congenital abnormalities in their diagnosis, genomic testing, and management. The goal was to make the evaluation of ... 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
Genomic MedicinePrinciples and Practice

Genomic Medicine: Principles and Practice (2 ed.)  

Dhavendra Kumar and Charis Eng (eds)

Print Publication Year: 
Sep 2014
Series: 
Other
Published Online: 
Feb 2015
eISBN: 
9780199398096
DOI: 
10.1093/med/9780199896028.001.0001
Career: 
Doctor, Undergraduate Doctor, Qualified, early specialism training, Researcher
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199896028
This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a ... More
Handbook of Physical Measurements

Handbook of Physical Measurements  

Karen W. Gripp, Anne M. Slavotinek, Judith G. Hall, and Judith E. Allanson

Print Publication Year: 
Sep 2013
Series: 
Other
Published Online: 
Feb 2014
eISBN: 
9780199353101
DOI: 
10.1093/med/9780199935710.001.0001
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199935710
Thoroughly updated and revised, this new edition of this resource provides a comprehensive review of physical measurements used in the clinical evaluation of neonates, children, and adults ... 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
Seeking CuresDesign of Therapies for Genetically Determined Diseases

Seeking Cures: Design of Therapies for Genetically Determined Diseases  

Moyra Smith

Print Publication Year: 
Sep 2013
Series: 
Other
Published Online: 
Aug 2014
eISBN: 
9780190213091
DOI: 
10.1093/med/9780199915866.001.0001
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199915866
Seeking Cures outlines the progress and implications of science's quest to identify therapeutic targets and initiate novel treatments at the gene, RNA, protein, and physiological levels. ... More
Signs and Symptoms of Genetic ConditionsA Handbook

Signs and Symptoms of Genetic Conditions: A Handbook  

Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, and H. Eugene Hoyme (eds)

Print Publication Year: 
May 2014
Series: 
Other
Published Online: 
Aug 2014
eISBN: 
9780199353071
DOI: 
10.1093/med/9780199930975.001.0001
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199930975
Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical online guide for the diagnosis and management ... More

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