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Adelaide Research & Scholarship
Adelaide Research & Scholarship
Browsing "Medicine" by Author Waddell, L.B.
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Showing results 2 to 3 of 3
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Issue Date
Title
Author(s)
2019
Pathogenic abnormal splicing due to intronic deletions that induce biophysical space constraint for spliceosome assembly
Bryen, S.J.
;
Joshi, H.
;
Evesson, F.J.
;
Girard, C.
;
Ghaoui, R.
;
Waddell, L.B.
;
Testa, A.C.
;
Cummings, B.
;
Arbuckle, S.
;
Graf, N.
;
Webster, R.
;
MacArthur, D.G.
;
Laing, N.G.
;
Davis, M.R.
;
Lührmann, R.
;
Cooper, S.T.
2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin
Riley, L.G.
;
Waddell, L.B.
;
Ghaoui, R.
;
Evesson, F.J.
;
Cummings, B.B.
;
Bryen, S.J.
;
Joshi, H.
;
Wang, M.X.
;
Brammah, S.
;
Kritharides, L.
;
Corbett, A.
;
MacArthur, D.G.
;
Cooper, S.T.