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Atlas of X-Linked Intellectual Disability Syndromes

Atlas of X-Linked Intellectual Disability Syndromes

Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers

Print Publication Year: 
Nov 2011
Series: 
Other
Published Online: 
Oct 2012
eISBN: 
9780199975174
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 information ... More
Basic Sciences for Ophthalmology

Basic Sciences for Ophthalmology

Louise Bye, Neil Modi, and Miles Stanford (eds)

Print Publication Year: 
May 2013
Series: 
Oxford Specialty Training, Oxford Specialty Training: Basic Sciences
Published Online: 
Jul 2013
eISBN: 
9780191769474
DOI: 
10.1093/med/9780199584994.001.0001
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training
Specialty: 
Ophthalmology, Clinical Medicine, Clinical Genetics, Pathology, Immunology
Item type: 
book
ISBN: 
9780199584994
Part of the Oxford Specialty Training series, Basic Sciences for Ophthalmology is an indispensable and fully comprehensive resource, and the only one that candidates will need to pass the FRCOphth ... More
The Bedside Dysmorphologist

The Bedside Dysmorphologist

William Reardon

Print Publication Year: 
Oct 2007
Series: 
Other
Published Online: 
Oct 2012
eISBN: 
9780199975204
DOI: 
10.1093/med/9780195300451.001.0001
Career: 
Doctor, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics, Paediatrics, Neonatology
Item type: 
book
ISBN: 
9780195300451
Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, ... More
Bone Dysplasias

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 counselors ... More
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
Ciliopathies

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 clinical ... 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
Females Are Mosaics

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 chromosomes ... 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
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 clinical ... More
Genetic Skin Disorders

Genetic Skin Disorders (2 ed.)

Virginia Sybert

Print Publication Year: 
Jun 2010
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Oct 2012
eISBN: 
9780199975228
DOI: 
10.1093/med/9780195397666.001.0001
Career: 
Doctor, Qualified, late specialism training, Qualified, specialist
Specialty: 
Clinical Medicine, Clinical Genetics, Dermatology
Item type: 
book
ISBN: 
9780195397666
This lavishly-illustrated resource represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, containing sections ... More

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