Inborn Errors of Development: The molecular basis of clinical disorders of morphogenesis

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en Limba Engleză Hardback – 17 Apr 2008
Honored by the Association of American Publishers as the Best Medical Book of 2004, Inborn Errors is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and Inborn Errors is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counseling and prognosis, and any known treatments are discussed. For medical geneticists, genetic counselors, pediatricians, and developmental biologists, the book is a unique and groundbreaking reference.
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ISBN-13: 9780195306910
ISBN-10: 0195306910
Pagini: 1617
Ilustrații: 514 colour illustrations and 250 black and white illustrations
Dimensiuni: 221 x 279 x 66 mm
Greutate: 4.23 kg
Ediția: 2nd edition.
Editura: Oxford University Press
Colecția OUP USA
Locul publicării: New York, United States


This text has achieved 'classic' status... the editors and authors have excelled in communicating mind-bogglingly complex processes to a very wide readership
This is an impressive and exciting book, a must-have for clinical geneticists and basic scientists at all levels of their careers...There is no publication comparable to this wonderful and well edited and written book. The quality is exceptional.