In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis
Koboldt, Daniel C, Kastury, Rama D, Waldrop, Megan A, Kelly, Benjamin J, Mosher, Theresa Mihalic, McLaughlin, Heather, Corsmeier, Don, Slaughter, Jonathan L, Flanigan, Kevin M, McBride, Kim L, Mehta, Lakshmi, Wilson, Richard K, White, Peter
Published in Cold Spring Harbor molecular case studies (01.10.2018)
Published in Cold Spring Harbor molecular case studies (01.10.2018)
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LOXL1 expression in lens capsule tissue specimens from individuals with pseudoexfoliation syndrome and glaucoma
Khan, Tanya T, Li, Guorong, Navarro, Iris D, Kastury, Rama D, Zeil, Carol J, Semchyshyn, Taras M, Moya, Frank J, Epstein, David L, Gonzalez, Pedro, Challa, Pratap
Published in Molecular vision (02.11.2010)
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Published in Molecular vision (02.11.2010)
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INTERMITTENT MSUD CASE, IN AN UNEXPLAINED ENCEPHALOPATH IN AN ADULT AFTER CARDIAC SURGERY
Balkaya, Seda, Kastury, Rama D., Jiang, Yong-Hui, Zhang, Hui, Bale, Allen, Spencer, Michele
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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Journal Article
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis
Koboldt, Daniel C, Kastury, Rama D, Waldrop, Megan A, Kelly, Benjamin J, Mosher, Theresa Mihalic, McLaughlin, Heather, Corsmeier, Don, Slaughter, Jonathan L, Flanigan, Kevin M, McBride, Kim L, Mehta, Lakshmi, Wilson, Richard K, White, Peter
Published in Cold Spring Harbor molecular case studies (01.10.2018)
Get full text
Published in Cold Spring Harbor molecular case studies (01.10.2018)
Journal Article