Published April, 2019
By Roger E. Stevenson, Giovanni Neri and Luigi Boccuto
Publisher: Oxford University Press (Oxford University Press Inc)
Series: Oxford Monographs on Medical Genetics
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Availability: Available

Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation.

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Published April, 2018
By R.J. McKinlay Gardner, David Amor and David J. Amor
Publisher: Oxford University Press (Oxford University Press Inc)
Series: Oxford Monographs on Medical Genetics
Rating:
Availability: Not available (reason unspecified)

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Published March, 2017
By Virginia Sybert and Virginia P. Sybert
Publisher: Oxford University Press (Oxford University Press Inc)
Series: Oxford Monographs on Medical Genetics
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Availability: Available

This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders.

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Published September, 2016
By Robert P. Erickson and Anthony J. Wynshaw-Boris
Publisher: Oxford University Press (Oxford University Press Inc)
Series: Oxford Monographs on Medical Genetics
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Availability: Available

Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. It is a top-to-bottom revision of the landmark text that both revolutionized and accelerated the field of human genetics.

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Published August, 2016
By Carla E. M. Hollak and Robin Lachmann
Publisher: Oxford University Press (Oxford University Press Inc)
Series: Oxford Monographs on Medical Genetics
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Availability: Available

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 recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever.

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Published December, 2015
By Judith G. Hall, Roger E. Stevenson, David B. Everman and Benjamin D. Solomon
Publisher: Oxford University Press (Oxford University Press Inc)
Series: Oxford Monographs on Medical Genetics
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Availability: Available

Authored by 40 authorities in genetics and dysmorphology, this streamlined new edition offers an authoritative and richly illustrated guide to clinical presentation, associated anomalies, treatment, and prognosis.

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Published February, 2015
By Alan E. H. Emery, Francesco Muntoni and Rosaline C. M. Quinlivan
Publisher: Oxford University Press
Series: Oxford Monographs on Medical Genetics
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Availability: Available

Fully revised and updated the new edition of Duchenne Muscular Dystrophy discusses the recent advances in the field of molecular biology for prenatal diagnosis and genetic counselling to the recent pioneering work with anti-sense oligonucleotides, and the possibility of effective RNA therapy.

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Published November, 2014
By Brendan Lee and Fernando Scaglia
Publisher: Oxford University Press (Oxford University Press Inc)
Series: Oxford Monographs on Medical Genetics
Rating:
Availability: Available

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Published November, 2014
By Charis Eng and Dhavendra Kumar
Publisher: Oxford University Press (Oxford University Press Inc)
Series: Oxford Monographs on Medical Genetics
Rating:
Availability: Available

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Published May, 2014
By Lesley Jones, Gillian Bates and Sarah Tabrizi
Publisher: Oxford University Press (Oxford University Press Inc)
Series: Oxford Monographs on Medical Genetics
Rating:
Availability: Available

The fourth edition of the preeminent resource on Huntington's disease is a comprehensive resource on the current knowledge base surrounding this disease. Comprising both updated chapters and seven entirely new chapters, it reflects the major advances that have recently occurred in our understanding of all aspects of this disease.

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