Publisher: John Wiley & Sons Inc
E-ISSN: 1552-4833|167|7|1654-1658
ISSN: 1552-4825
Source: American Journal Of Medical Genetics Part A, Vol.167, Iss.7, 2015-07, pp. : 1654-1658
Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.
Abstract
Related content
Non-Coding Loss-of-Function Variation in Human Genomes
Human Heredity, Vol. 81, Iss. 2, 2017-01 ,pp. :
loss-of-function mutations in developmental eye disorders including SHORT syndrome
By Reis Linda Tyler Rebecca Schilter Kala Abdul-Rahman Omar Innis Jeffrey Kozel Beth Schneider Adele Bardakjian Tanya Lose Edward Martin Donna Broeckel Ulrich Semina Elena
Human Genetics, Vol. 130, Iss. 4, 2011-10 ,pp. :
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
By Fassio Anna Patry Lysanne Congia Sonia Onofri Franco Piton Amelie Gauthier Julie Pozzi Davide Messa Mirko Defranchi Enrico Fadda Manuela Corradi Anna Baldelli Pietro Lapointe Line St-Onge Judith Meloche Caroline Mottron Laurent Valtorta Flavia Khoa Nguyen Dang Rouleau Guy A. Benfenati Fabio Cossette Patrick
Human Molecular Genetics, Vol. 20, Iss. 12, 2011-06 ,pp. :
By Michaud Annie Bur Daniel Gribouval Olivier Muller Laurent Iturrioz Xavier Clemessy Maud Gasc Jean-Marie Gubler Marie-Claire Corvol Pierre
Human Molecular Genetics, Vol. 20, Iss. 2, 2011-01 ,pp. :