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| Author | Identifier | Number of Items | Total Downloads |
|---|---|---|---|
| Bahlo, M |  https://orcid.org/0000-0001-5132-0774 |
6 | 117 |
| Title | Author(s) | IrusType | Repository | Item URL | Total Downloads |
|---|---|---|---|---|---|
| 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 |
| Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy | orcid:0000-0003-1949-8489; orcid:0000-0001-5132-0774; orcid:0000-0003-4580-841X; orcid:0000-0002-2311-2174; orcid:0000-0002-7884-6861; Corbett, MA; Bellows, ST; Li, M; Carroll, R; Micallef, S; Carvill, GL; Myers, CT; Howell, KB; Maljevic, S; Lerche, H; Ga | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/213182 | 1 |
| Early neuroimaging markers of FOXP2 intragenic deletion | orcid:0000-0002-8640-6217; orcid:0000-0003-2739-0515; orcid:0000-0002-2311-2174; orcid:0000-0001-5132-0774; orcid:0000-0001-7159-8079; orcid:0000-0003-1147-7405; Liegeois, FJ; Hildebrand, MS; Bonthrone, A; Turner, SJ; Scheffer, IE; Bahlo, M; Connelly, A; | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/213181 | 34 |
| 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 |
| SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis | orcid:0000-0001-7052-1969; orcid:0000-0001-5132-0774; orcid:0000-0002-8814-5866; orcid:0000-0001-5134-8929; orcid:0000-0002-1921-4493; Constantine, CC; Gurrin, LC; McLaren, CE; Bahlo, M; Anderson, GJ; Vulpe, CD; Forrest, SM; Allen, KJ; Gertig, DM | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/45236 | 24 |
| Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage | orcid:0000-0002-5385-761X; orcid:0000-0001-8034-3123; orcid:0000-0001-6680-2725; orcid:0000-0001-6854-765X; orcid:0000-0003-4385-4957; orcid:0000-0001-7189-7917; orcid:0000-0001-5132-0774; orcid:0000-0003-4580-841X; Smith, KR; Damiano, J; Franceschetti, S | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/41352 | 2 |
