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Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias

Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias  

Michael J. Strong (ed.)

Print Publication Year: 
Oct 2012
Series: 
Other
Published Online: 
Nov 2012
eISBN: 
9780191753466
DOI: 
10.1093/med/9780199590674.001.0001
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training
Specialty: 
Clinical Medicine, Neurology, Pathology, Clinical Genetics
Item type: 
book
ISBN: 
9780199590674

This resource summarizes the advances in our understanding of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), as well as the potential relationship between the two.

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 (3 ed.)  

Jurgen W. Spranger, Paula Brill, Andrea Superti-Furga, Sheila Unger, and Gen Nishimura

Print Publication Year: 
Sep 2012
Series: 
Other
Published Online: 
Nov 2013
eISBN: 
9780199353095
DOI: 
10.1093/med/9780195396089.001.0001
Career: 
Doctor, Undergraduate Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics, Radiology, Clinical Radiology
Item type: 
book
ISBN: 
9780195396089
This comprehensive resource in the study and investigation of bone dysplasias is a must-have resource for radiologists, medical geneticists, orthopedic surgeons, pediatricians, and genetic ... 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, Medical Dentistry, Oral and Maxillofacial Surgery, Cardiovascular Medicine, Dermatology
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
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

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