Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation

av Tuysuz, Beyhan, Pehlivan, Davut, Özkök, Ahmet, Jhangiani, Shalini, Yalcinkaya, Cengiz, Zeybek, Çiğdem Aktuğlu, Muzny, Donna Marie, Lupski, James R., Gibbs, Richard, Jaeken, Jaak
I publikationen JIMD Rep (2015)

Whole genome sequence analysis of serum amino acid levels

av Yu, Bing, de Vries, Paul S., Metcalf, Ginger A., Wang, Zhe, Feofanova, Elena V., Liu, Xiaoming, Muzny, Donna Marie, Wagenknecht, Lynne E., Gibbs, Richard A., Morrison, Alanna C., Boerwinkle, Eric
I publikationen Genome Biol (2016)

The Drosophila melanogaster Genetic Reference Panel

av Mackay, Trudy F. C., Richards, Stephen, Stone, Eric A., Barbadilla, Antonio, Ayroles, Julien F., Zhu, Dianhui, Casillas, Sònia, Han, Yi, Magwire, Michael M., Cridland, Julie M., Richardson, Mark F., Anholt, Robert R. H., Barrón, Maite, Bess, Crystal, Blankenburg, Kerstin Petra, Carbone, Mary Anna, Castellano, David, Chaboub, Lesley, Duncan, Laura, Harris, Zeke, Javaid, Mehwish, Jayaseelan, Joy Christina, Jhangiani, Shalini N., Jordan, Katherine W., Lara, Fremiet, Lawrence, Faye, Lee, Sandra L., Librado, Pablo, Linheiro, Raquel S., Lyman, Richard F., Mackey, Aaron J., Munidasa, Mala, Muzny, Donna Marie, Nazareth, Lynne, Newsham, Irene, Perales, Lora, Pu, Ling-Ling, Qu, Carson, Ràmia, Miquel, Reid, Jeffrey G., Rollmann, Stephanie M., Rozas, Julio, Saada, Nehad, Turlapati, Lavanya, Worley, Kim C., Wu, Yuan-Qing, Yamamoto, Akihiko, Zhu, Yiming, Bergman, Casey M., Thornton, Kevin R., Mittelman, David, Gibbs, Richard A.
Publicerad 2012