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Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling (4 ed.)  

R.J.M Gardner, Grant R Sutherland, and Lisa G. Shaffer

Print Publication Year: 
Nov 2011
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Oct 2012
eISBN: 
9780199975174
DOI: 
10.1093/med/9780195375336.001.0001
Career: 
Doctor, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780195375336
This new edition of Chromosome Abnormalities and Genetic Counseling is a thoroughly updated ands richly-illustrated resource, combining basic concepts of chromosomal analysis with practical ... 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
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 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
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
Huntington's Disease

Huntington's Disease  

Gillian Bates, Sarah Tabrizi, and Lesley Jones (eds)

Print Publication Year: 
Mar 2014
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Aug 2014
eISBN: 
9780199370481
DOI: 
10.1093/med/9780199929146.001.0001
Career: 
Doctor, Qualified, early specialism training
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199929146
This fourth edition of Huntington's disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have ... More
Inborn Errors of MetabolismFrom Neonatal Screening to Metabolic Pathways

Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways  

Brendan Lee and Fernando Scaglia (eds)

Print Publication Year: 
Oct 2014
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Mar 2015
eISBN: 
9780199398508
DOI: 
10.1093/med/9780199797585.001.0001
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training, Researcher
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199797585
Works on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an ... More
Inherited Metabolic Disease in AdultsA Clinical Guide

Inherited Metabolic Disease in Adults: A Clinical Guide  

Carla E. M. Hollak and Robin Lachmann (eds)

Print Publication Year: 
Jul 2016
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Sep 2016
eISBN: 
9780190463083
DOI: 
10.1093/med/9780199972135.001.0001
Career: 
Allied Health Professional, Researcher
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199972135
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread ... More

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