Resultados de búsqueda - Crist, Erin

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant por Koboldt, Daniel C., Hickey, Scott E., Chaudhari, Bimal P., Mihalic Mosher, Theresa, Bedrosian, Tracy, Crist, Erin, Kaler, Stephen G., McBride, Kim, White, Peter, Wilson, Richard K.

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Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree por Hickey, Scott E., Koboldt, Daniel C., Mosher, Theresa Mihalic, Brennan, Patrick, Schmalz, Beth A., Crist, Erin, McBride, Kim L., Adler, Brent H., White, Peter, Wilson, Richard K.

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Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease por Ramadesikan, Swetha, Hickey, Scott, De Los Reyes, Emily, Patel, Anup D., Franklin, Samuel J., Brennan, Patrick, Crist, Erin, Lee, Kristy, White, Peter, McBride, Kim L., Koboldt, Daniel C., Wilson, Richard K.

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PTEN somatic mutations contribute to spectrum of cerebral overgrowth por Koboldt, Daniel C, Miller, Katherine E, Miller, Anthony R, Bush, Jocelyn M, McGrath, Sean, Leraas, Kristen, Crist, Erin, Fair, Summer, Schwind, Wesley, Wijeratne, Saranga, Fitch, James, Leonard, Jeffrey, Shaikhouni, Ammar, Hester, Mark E, Magrini, Vincent, Ho, Mai-Lan, Pierson, Christopher R, Wilson, Richard K, Ostendorf, Adam P, Mardis, Elaine R, Bedrosian, Tracy A

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Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue por Miller, Katherine E., Koboldt, Daniel C., Schieffer, Kathleen M., Bedrosian, Tracy A., Crist, Erin, Sheline, Adrienne, Leraas, Kristen, Magrini, Vincent, Zhong, Huachun, Brennan, Patrick, Bush, Jocelyn, Fitch, James, Bir, Natalie, Miller, Anthony R., Cottrell, Catherine E., Leonard, Jeffrey, Pindrik, Jonathan A., Rusin, Jerome A., Shah, Summit H., White, Peter, Wilson, Richard K., Mardis, Elaine R., Pierson, Christopher R., Ostendorf, Adam P.

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Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes por Yang, Jennifer H., Friederich, Marisa W., Ellsworth, Katarzyna A., Frederick, Aliya, Foreman, Emily, Malicki, Denise, Dimmock, David, Lenberg, Jerica, Prasad, Chitra, Yu, Andrea C., Rupar, C. Anthony, Hegele, Robert A., Manickam, Kandamurugu, Koboldt, Daniel C., Crist, Erin, Choi, Samantha S., Farhan, Sali M.K., Harvey, Helen, Sattar, Shifteh, Karp, Natalya, Wong, Terence, Haas, Richard, Van Hove, Johan L.K., Wigby, Kristen

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