Search Results

A novel mutation in KIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort

by Elliott, Alison M, Simard, Louise R, Coghlan, Gail, Chudley, Albert E, Chodirker, Bernard N, Greenberg, Cheryl R, Burch, Tanya, Ly, Valentina, Hatch, Grant M, Zelinski, Teresa
Published in Journal of Medical Genetics (2013)

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

by Li, Lili, Hamel, Nancy, Baker, Kristi, Mcguffin, Michael J, Couillard, Martin, Gologan, Adrian, Marcus, Victoria A, Chodirker, Bernard, Chudley, Albert, Stefanovici, Camelia, Durandy, Anne, Hegele, Robert A, Feng, Bing Jian, Goldgar, David E, ZHU, jun, DE ROSA, MARINA, Gruber, Stephen B, Wimmer, Katharina, Young, Barbara, Chong, George, Tischkowitz, Marc D, Foulkes, William D.
Published in Journal of Medical Genetics (2015)