The Year in Human and Medical Genetics
New Trends in Mendelian Genetics, Volume 1214
Herausgegeben von Casanova, Jean-Laurent
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The latest edition of The Year in Human and Medical Genetics explores 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 latest edition of The Year in Human and Medical Genetics explores 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 click here.
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 the Annals online and discounts on print volumes. Please visit for more information about becoming a member.
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 click here.
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 the Annals online and discounts on print volumes. Please visit for more information about becoming a member.
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