Abstract

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference.

Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease.

This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com.

• Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics
• Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing
• Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com

"…this is a masterful summary of essential information for the practice of clinical genetics...From nurse practitioners to supervising physicians, from early trainees to senior fellows, this is a must-have tool…Sadly, David Rimoin died after a brief illness after finalizing this amazing book. The medical genetics community will miss him greatly. There are no books that match the quality of this one."Rating: 5 Stars--Doody.com, March 7, 2014 "The late Rimoin, Pyeritz, and Korf present 163 brief chapters that summarize chapters from Emery and Rimoin's Principles and Practice of Medical Genetics, for students, researchers, and practitioners…This edition has new chapters and includes common disorders not traditionally viewed as genetic."--Reference and Research Book News, August 2013