Oxford Desk Reference: Clinical Genetics and Genomics (Oxford Desk Reference Series), 2nd Edition (PDF)

Are you looking for a reliable guide for clinical consultations in genetics and genomic medicine? Look no further than this popular and easy-to-use guide, a must-have tool for your practice. It covers the process of diagnosis, investigation, management, and counseling for patients with a strong evidence base and international guidelines. Quick and accessible, the A to Z format ensures that the reliable and trustworthy guidance is right at your fingertips. The simple layout and illustrations make it easy to assimilate information. It also includes the most up-to-date glossaries of terms used in genetics and dysmorphology, providing a quick reference for key concepts.

The eagerly anticipated second edition of this gold standard book in the field is now available. The update covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. In addition, it contains fifteen new topics, including Sudden cardiac death, Neonatal screening, and Ciliopathies. With practical clinical approaches and diagnostic criteria for many common genetic referrals, both outpatient, and ward-based, it covers the most common Mendelian disorders, chromosomal disorders, congenital anomalies, and syndromes. It also offers information on the less common situations where management is particularly complex. Moreover, it provides valuable chapters on familial cancer and pregnancy-related issues such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis, and non-invasive prenatal testing.

Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.