检索结果 - McCormack, Colleen

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions 由 Ng, Bobby G., Eklund, Erik A., Shiryaev, Sergey A., Dong, Yin Y., Abbott, Mary-Alice, Asteggiano, Carla, Bamshad, Michael J., Barr, Eileen, Bernstein, Jonathan A., Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K., Ciliberto, Michael A., Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D., Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S., Hoganson, George E., Houck, Kimberly M., Kohler, Jennefer N., Morava, Eva, Larson, Austin A., Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi J.L., Miller, Rebecca, Monaghan, Kristin G., Nickerson, Deborah A., Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A., Scheffer, Ingrid E., Schenone, Andrea Beatriz, Schnur, Rhonda E., Si, Yue, Rowe, Leah J., Serrano Russi, Alvaro H., Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Mercedes Villanueva, María, Wang, Raymond Y., Webster, Richard I., Wilson, Dorcas, Zalan, Alice, Wolfe, Lynne A., Rosenfeld, Jill A., Rhodes, Lindsay, Freeze, Hudson H.

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