Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum

por Sturrock, Beattie R. H., Macnamara, Ellen F., McGuire, Peter, Kruk, Shannon, Yang, Ivan, Murphy, Jennifer, Tifft, Cyndi J., Gordon‐Lipkin, Eliza
Publicado 2021

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

por Schoch, Kelly, Esteves, Cecilia, Bican, Anna, Spillmann, Rebecca, Cope, Heidi, McConkie-Rosell, Allyn, Walley, Nicole, Fernandez, Liliana, Kohler, Jennefer N, Bonner, Devon, Reuter, Chloe, Stong, Nicholas, Mulvihill, John J., Novacic, Donna, Wolfe, Lynne, Abdelbaki, Ayat, Toro, Camilo, Tifft, Cyndi, Malicdan, May, Gahl, William, Liu, Pengfei, Newman, John, Goldstein, David B., Hom, Jason, Sampson, Jacinda, Wheeler, Matthew T., Cogan, Joy, Bernstein, Jonathan A., Adams, David R., McCray, Alexa T., Shashi, Vandana
Publicado 2020