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Author/Creator Hyatt, Tommy

1. Biallelic variants in RNU12 cause CDAGS syndrome. Issue 8 (15th June 2021)

Authors:
Xing, Chao; Kanchwala, Mohammed; Rios, Jonathan J.; Hyatt, Tommy; Wang, Richard C.; Tran, An; Dougherty, Irene; Tovar‐Garza, Andrea; Purnadi, Christy; Kumar, Monique G.; Berk, David; Shinawi, Marwan; Irvine, Alan D.; Toledo‐Bahena, Mirna; Agim, Nnenna G.; Glass, Donald A.
Journal:
Human mutation
Issue:
Volume 42:Issue 8(2021)
Page Start:
1042
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Issue 3 (29th July 2013)

Authors:
Scott, Stuart A.; Liu, Benny; Nazarenko, Irina; Martis, Suparna; Kozlitina, Julia; Yang, Yao; Ramirez, Charina; Kasai, Yumi; Hyatt, Tommy; Peter, Inga; Desnick, Robert J.
Journal:
Hepatology
Issue:
Volume 58:Issue 3(2013:Sep.)
Page Start:
958
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

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