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

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

by authors Jane A. Hurst and Helen V. Firth

This book is a must-have resource for clinical consultations in genetics and genomic medicine because it is well-liked and simple to utilize .

It covers the process of diagnosis , investigation , management and patient counseling , making it perfect for quick reference during practice . It delivers dependable and trustworthy counsel at your fingertips with a solid evidence base and global criteria . The A to Z style makes it approachable and the straightforward layout makes it simple to absorb information , making it ideal for use as a first-line reference .

The book is richly illustrated and includes current glossaries of terminology used in genetics and dysmorphology for easy reference of important ideas . An much awaited revision of the industry standard in the specialty is the second edition . It covers recent advancements in the discipline , including the introduction of genome-wide sequencing and significant advancements in cancer .

There are now fifteen additional topics , such as Ciliopathies , Neonatal screening and Sudden Cardiac Death . The authors have developed a workable clinical strategy for numerous frequent genetic referrals , including in- and outpatient settings , using their experience . Congenital abnormalities , syndromes and the most prevalent Mendelian disorders are all described , along with any  diagnostic criteria that may be present .

Chapters on familial cancer and pregnancies-related subjects including fetal malformations , teratogens , prenatal and pre-implantation diagnostics and non-invasive prenatal testing are also included . The book also discusses uncommon circumstances where management is exceptionally challenging . Oxford Desk Reference : Clinical Genetics and Genomics is the companion you need at your side during clinical consultations since it is both applicable and practical .

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

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