Name: the year in human and medical genetics: new trends in mendelian genetics
Price: 126.98 USD
Availability: InStock
Author: jean-laurent casanova, laurent abel, stanislas lyonnet
ISBN: 9781573317894

portada the year in human and medical genetics: new trends in mendelian genetics

Type

Physical Book

Publisher

wiley-blackwell

Author

jean-laurent casanova, laurent abel, stanislas lyonnet

Pages

252.00

ISBN

1573317896

ISBN13

9781573317894

Synopsis "the year in human and medical genetics: new trends in mendelian genetics"

the latest edition of the year in human and medical genetics is focused on exploring new trends in mendelian genetics. while mendelian genetics is often seen as an out-dated discipline of interest to rare patients and few scholars, there have been many ground-breaking discoveries have been made in mendelian genetics in the last decade. single-gene defects of known mendelian phenotypes have been deciphered, and novel diagnostic and therapeutic means have been devised, thanks to these studies. moreover, novel phenotypes have been explored from a mendelian angle, including common phenotypes. this volume captures the most important topics in mendelian genetics through thought-provoking reviews that highlight the importance of classical mendelian phenotypes and, when applicable, that challenge the rare disease-rare variant/common disease-common variant theme so common today. featured topics include: deafness, infectious diseases, kidney diseases, cns development, autoimmunity, population genetics and mendelian traits, heart disorders, and obesity.