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Adelaide Research & Scholarship
Adelaide Research & Scholarship
Browsing "University Library" by Author Babic, M.
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Showing results 11 to 16 of 16
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Issue Date
Title
Author(s)
2020
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome
Arts, P.
;
Garland, J.
;
Byrne, A.B.
;
Hardy, T.S.E.
;
Babic, M.
;
Feng, J.
;
Wang, P.
;
Ha, T.
;
King-Smith, S.L.
;
Schreiber, A.W.
;
Crawford, A.
;
Manton, N.
;
Moore, L.
;
Barnett, C.P.
;
Scott, H.S.
2020
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
Byrne, A.B.
;
Mizumoto, S.
;
Arts, P.
;
Yap, P.
;
Feng, J.
;
Schreiber, A.W.
;
Babic, M.
;
King-Smith, S.L.
;
Barnett, C.P.
;
Moore, L.
;
Sugahara, K.
;
Mutlu-Albayrak, H.
;
Nishimura, G.
;
Liebelt, J.E.
;
Yamada, S.
;
Savarirayan, R.
;
Scott, H.S.
2015
Revealing missing human protein isoforms based on ab initio prediction, RNA-seq and proteomics
Hu, Z.
;
Scott, H.
;
Qin, G.
;
Zheng, G.
;
Chu, X.
;
Xie, L.
;
Adelson, D.
;
Oftedal, B.
;
Venugopal, P.
;
Babic, M.
;
Hahn, C.
;
Zhang, B.
;
Wang, X.
;
Li, N.
;
Wei, C.
2020
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML
Brown, A.L.
;
Arts, P.
;
Carmichael, C.L.
;
Babic, M.
;
Dobbins, J.
;
Chong, C.-E.
;
Schreiber, A.W.
;
Feng, J.
;
Phillips, K.
;
Wang, P.P.S.
;
Ha, T.
;
Homan, C.C.
;
King-Smith, S.L.
;
Rawlings, L.
;
Vakulin, C.
;
Dubowsky, A.
;
Burdett, J.
;
Moore, S.
;
McKavanagh, G.
;
Henry, D.
;
et al.
2021
Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer
Singhal, D.
;
Hahn, C.N.
;
Feurstein, S.
;
Wee, L.Y.A.
;
Moma, L.
;
Kutyna, M.M.
;
Chhetri, R.
;
Eshraghi, L.
;
Schreiber, A.W.
;
Feng, J.
;
Wang, P.P.-S.
;
Babic, M.
;
Parker, W.T.
;
Gao, S.
;
Moore, S.
;
Das, S.
;
Thomas, D.
;
Pattnaik, S.
;
Brown, A.L.
;
D'Andrea, R.J.
;
et al.
2020
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss
Venugopal, P.
;
Gagliardi, L.
;
Forsyth, C.
;
Feng, J.
;
Phillips, K.
;
Babic, M.
;
Poplawski, N.K.
;
Rienhoff, H.Y.
;
Schreiber, A.W.
;
Hahn, C.N.
;
Brown, A.L.
;
Scott, H.S.