描述
Oxford Desk Reference: Clinical Genetics and Genomics (Oxford Desk Reference Series)
by Jane A. Hurst (author) Helen V. Firth (author) (Author)
Hardback
Publisher: Oxford University Press; 2 edition
Language: English
ISBN-10: 0199557500
ISBN-13: 978-0199557509
Product Dimensions: 7.2 x 2 x 9.8 inches
2017
The gold standard for clinical consultation in genetics
Includes 79 clinical approaches and 54 common consultations, in an easy-to-use A-Z format
Sets out practical strategies for investigations and management
Includes the most frequent referrals to a geneticist for out-patient or ward consultation
Each section has been reviewed by world experts in the field
New to this Edition:
Comprehensively updated and revised for the genomic era
Many new figures, tables, and illustrations enhance understanding and provide quicker reference for key concepts
Fifteen new topics increase the depth of this already comprehensive resource: Sudden cardiac death, Ciliopathies, Genetic basis of cancer, Genomic sequencing and interpretation of data from WES or WGS analyses, Timing and origin of new dominant mutations, Congenital hypothyroidism, Intracranial calcification, Prostate cancer, Renal cancer, Fetal akinesia, Neonatal (newborn) screening (NS), Non-invasive prenatal diagnosis/testing (NIPD/T), Oligohydramnios (Including Potter/ Oligohydramnios sequence), Paternal age, and Polyhydramnios.
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