PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication

por Dawson, Angelika J., Cox, Janice, Hovanes, Karine, Spriggs, Elizabeth
Publicado 2015

A-T(Winnipeg): Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening r...

por Nakamura, Kotoka, Fike, Francesca, Haghayegh, Sara, Saunders-Pullman, Rachel, Dawson, Angelika J, Dörk, Thilo, Gatti, Richard A
Publicado 2014

Understanding the impact of 1q21.1 copy number variant

por Harvard, Chansonette, Strong, Emma, Mercier, Eloi, Colnaghi, Rita, Alcantara, Diana, Chow, Eva, Martell, Sally, Tyson, Christine, Hrynchak, Monica, McGillivray, Barbara, Hamilton, Sara, Marles, Sandra, Mhanni, Aziz, Dawson, Angelika J, Pavlidis, Paul, Qiao, Ying, Holden, Jeanette J, Lewis, Suzanne ME, O'Driscoll, Mark, Rajcan-Separovic, Evica
Publicado 2011