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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
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
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
Foundations of Perinatal Genetic Counseling

Foundations of Perinatal Genetic Counseling  

Amber Mathiesen and Kali Roy

Print Publication Year: 
Apr 2018
Series: 
Genetic Counseling in Practice
Published Online: 
May 2018
eISBN: 
9780190681111
DOI: 
10.1093/med/9780190681098.001.0001
Career: 
Doctor
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780190681098
Foundations of Perinatal Genetic Counseling provides an overview of the core concepts needed to practice perinatal genetic counseling, including the basics of pregnancy, the ... More
Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling

Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling (5 ed.)  

R.J. McKinlay Gardner and David J. Amor

Print Publication Year: 
Feb 2018
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Feb 2018
eISBN: 
9780190871642
DOI: 
10.1093/med/9780199329007.001.0001
Career: 
Doctor
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199329007
Medical geneticists and genetic counselors regularly see families attending the genetic counseling clinic with questions about chromosome abnormalities. These families may themselves have ... More
Genetic Counseling Research: A Practical Guide

Genetic Counseling Research: A Practical Guide  

Ian M. MacFarlane, Patricia McCarthy Veach, and Bonnie S. LeRoy

Print Publication Year: 
May 2014
Series: 
Genetic Counseling in Practice
Published Online: 
Nov 2014
eISBN: 
9780199359127
DOI: 
10.1093/med/9780199359097.001.0001
Career: 
Researcher, Doctor, Undergraduate Doctor
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199359097
Genetic Counseling Research: A Practical Guide is an online resource devoted to research methodology in genetic counseling. It offers step-by-step guidance for conducting research, from the ... More
Genetic Diseases of the Eye

Genetic Diseases of the Eye (2 ed.)  

Elias I Traboulsi, MD (ed.)

Print Publication Year: 
Jan 2012
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Oct 2012
eISBN: 
9780199975181
DOI: 
10.1093/med/9780195326147.001.0001
Career: 
Doctor, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics, Ophthalmology
Item type: 
book
ISBN: 
9780195326147
This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. Each chapter emphasizes the ... More
Genetic Skin Disorders

Genetic Skin Disorders (3 ed.)  

Virginia P. Sybert

Print Publication Year: 
Jan 2017
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
May 2017
eISBN: 
9780190276492
DOI: 
10.1093/med/9780190276478.001.0001
Career: 
Doctor, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics, Dermatology
Item type: 
book
ISBN: 
9780190276478
This book is a readable, reliable guide to the diagnosis and differential of inherited skin disorders to which generalists, paediatricians, dermatologists, and geneticists can refer during ... 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
Genetics of Obesity Syndromes

Genetics of Obesity Syndromes  

Philip R. Beales, I. Sadaf Farooqi, and Stephen O'Rahilly

Print Publication Year: 
Jul 2009
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Oct 2012
eISBN: 
9780199975198
DOI: 
10.1093/med/9780195300161.001.0001
Career: 
Doctor, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics, Endocrinology and Diabetes
Item type: 
book
ISBN: 
9780195300161
This resource addresses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for ... 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
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

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