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2016, ISBN 3662497697
This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an... 
Medicine | Neurology | Pediatrics | Human genetics | Endocrinology
Web Resource
2006, STU - Student edition, In-Formation, ISBN 9780691121932, 256
Book
11/2016, 6 ed., ISBN 3662497697, 655
This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an... 
Pre-clinical Medicine: Basic Sciences | Neurology | Human Genetics | Pediatrics | Medicine & Public Health | Endocrinology
eBook
2010, 3rd ed., ISBN 0470191414, xxii, 962
Dr. Suzanne Cassidy is Chief, Division of Human Genetics, Professor of Clinical Pediatrics, and Director of the Residency Training Program in Medical Genetics... 
Genetic disorders | Abnormalities, Multiple - therapy | Abnormalities, Multiple - diagnosis | Genetic Diseases, Inborn - therapy | Variation | Genetic Diseases, Inborn - diagnosis | Human genetics | Diseases
Book
Genetic testing, ISSN 1090-6576, 1997
Journal
The New England Journal of Medicine, ISSN 0028-4793, 10/2013, Volume 369, Issue 16, pp. 1502 - 1511
Journal Article
Human Mutation, ISSN 1059-7794, 2013, Volume 34, Issue 12, pp. 1721 - 1726
Journal Article
Journal Article