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Omschrijving

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.

NOTE: Annals volumes are available for sale as individual books or as a journal. For information on institutional journal subscriptions, please visit: http: //ordering.onlinelibrary.wiley.com/subs.asp?ref=1749-6632&doi=10.1111/(ISSN)1749-6632.

ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (www.nyas.org). Members of the New York Academy of Science receive full-text access to Annals online and discounts on print volumes. Please visit http: //www.nyas.org/MemberCenter/Join.aspx for more information about becoming a member.