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Adelaide Research & Scholarship
Adelaide Research & Scholarship
Browsing "University Library" by Author Scott, H.S.
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Showing results 8 to 12 of 12
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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.
2012
Rare and novel epidermal growth factor receptor mutations in non-small-cell lung cancer and lack of clinical response to gefitinib in two cases
Sharma, A.
;
Tan, T.H.
;
Cheetham, G.
;
Scott, H.S.
;
Brown, M.P.
2020
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)
Brown, A.L.
;
Hahn, C.N.
;
Scott, H.S.
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.