Successful liver transplantation in an adult patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Garcia, Evan-Jacob, Graham, Brett, Lacerda, Marco, Kubal, Chandrashekhar, Snook, Riley, Luu, Sharon, Sapp, Katherine
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
eP030 - Successful liver transplantation in an adult patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
Garcia, Evan-Jacob, Graham, Brett, Lacerda, Marco, Kubal, Chandrashekhar, Snook, Riley, Luu, Sharon, Sapp, Katherine
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
IDENTIFYING A MADD-LIKE BIOCHEMICAL IMPOSTER BETTER KNOWN AS FLAVIN ADENINE DINUCLEOTIDE SYNTHASE DEFICIENCY: A RETROSPECTIVE CLIR APPROACH
Stander, Zinandré, Ammous, Zineb, Werker, Joanne, Miller, Marcus, Sapp, Katherine, Hainline, Bryan, Mendelsohn, Bryce, Studinski, April, Schultz, Matthew, Hall, Patricia, Matern, Dietrich, Tortorelli, Silvia, Oglesbee, Devin, Gavrilov, Dimitar
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Goodman, Lindsey D., Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A., Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A., Haaxma, Charlotte A., Veenstra-Knol, Hermine E., Wassink-Ruiter, Jolien S. Klein, Wevers, Marijke R., Jones, Melissa, Walsh, Laurence E., Klee, Victoria H., Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E.S., Kurian, Manju A., Mohammad, Shekeeb S., Dale, Russell C., Terhal, Paulien A., van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogné, Benjamin, Isidor, Bertrand, Grebe, Theresa A., Kulch, Peggy, Hainline, Bryan E., Sapp, Katherine, Morava, Eva, Klee, Eric W., Macke, Erica L., Trapane, Pamela, Spencer, Christopher, Si, Yue, Begtrup, Amber, Moulton, Matthew J., Dutta, Debdeep, Kanca, Oguz, Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J., Tan, Queenie K.-G.
Published in American journal of human genetics (02.09.2021)
Published in American journal of human genetics (02.09.2021)
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An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3
Castelluccio, Valerie J., Vetrini, Francesco, Lynnes, Ty, Jones, Julie, Holloway, Lynda, Belonis, Alyce, Breman, Amy M., Graham, Brett H., Sapp, Katherine, Wilson, Theodore, Schwartz, Charles E., Pratt, Victoria M., Weaver, David D.
Published in American journal of medical genetics. Part A (01.12.2019)
Published in American journal of medical genetics. Part A (01.12.2019)
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