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Author | Identifier | Number of Items | Total Downloads |
---|---|---|---|
Amor, D | ![]() |
3 | 118 |
Title | Author(s) | IrusType | Repository | Item URL | Total Downloads |
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Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss | orcid:0000-0001-6049-6931; orcid:0000-0002-8847-9401; orcid:0000-0001-6397-1910; orcid:0000-0001-7191-8511; orcid:0000-0001-5132-0774; orcid:0000-0003-2531-8413; Marsh, APL; Lukic, V; Pope, K; Bromhead, C; Tankard, R; Ryan, MM; Yiu, EM; Sim, JCH; Delaryck | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/219698 | 25 |
Fertility in Turner syndrome | orcid:0000-0001-5975-9378; orcid:0000-0001-7191-8511; orcid:0000-0001-6481-5004; Hewitt, JK; Jayasinghe, Y; Amor, DJ; Gillam, LH; Warne, GL; Grover, S; Zacharin, MR | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/44141 | 62 |
Heterozygous mutations in HISD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency | orcid:0000-0001-7191-8511; orcid:0000-0001-6049-6931; orcid:0000-0002-8847-9401; orcid:0000-0001-5132-0774; orcid:0000-0003-2531-8413; Amor, DJ; Marsh, AP; Storey, E; Tankard, R; Gillies, G; Delatycki, MB; Pope, K; Bromhead, C; Leventer, RJ; Bahlo, M; Loc | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/219699 | 31 |