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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
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
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
Epstein's Inborn Errors of DevelopmentThe Molecular Basis of Clinical Disorders of Morphogenesis

Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (3 ed.)  

Robert P. Erickson and Anthony J. Wynshaw-Boris (eds)

Print Publication Year: 
Jun 2016
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Jul 2016
eISBN: 
9780190213534
DOI: 
10.1093/med/9780199934522.001.0001
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199934522
Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has been identified. For each disorder, an analysis of the role of the ... 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
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
Genomics and Health in the Developing World

Genomics and Health in the Developing World  

Dhavendra Kumar (ed.)

Print Publication Year: 
May 2012
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Feb 2014
eISBN: 
9780199392995
DOI: 
10.1093/med/9780195374759.001.0001
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780195374759
Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation - with particular emphasis on medical ... More

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