A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders
Innes, AM, Boycott, KM, Puffenberger, EG, Redl, D, MacDonald, IM, Chudley, AE, Beaulieu, C, Perrier, R, Gillan, T, Wade, A, Parboosingh, JS
Published in Clinical genetics (01.11.2010)
Published in Clinical genetics (01.11.2010)
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Mutation of the PAX6 gene in patients with autosomal dominant keratitis
MIRZAYANS, F, PEARCE, W. G, MACDONALD, I. M, WALTER, M. A
Published in American journal of human genetics (01.09.1995)
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Published in American journal of human genetics (01.09.1995)
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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O. G. P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J. L., Sampson, J. R., Chinnery, P., Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J. L., Kretzschmar, D., Cayouette, M., Koenekoop, R. K.
Published in Nature communications (09.01.2015)
Published in Nature communications (09.01.2015)
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The sedimentary and tectonic evolution of the Amur River and North Sakhalin Basin: new evidence from seismic stratigraphy and Neogene-Recent sediment budgets
Nicholson, Uisdean, van der Es, Bas, Clift, Peter D., Flecker, Rachel, Macdonald, David I. M.
Published in Basin research (01.03.2016)
Published in Basin research (01.03.2016)
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Long-term exhumation of a Palaeoproterozoic orogen and the role of pre-existing heterogeneous thermal crustal properties; a fission-track study of SE Baffin Island
McGregor, E. D, Nielsen, S. B, Stephenson, R. A, Petersen, K. D, MacDonald, D. I. M
Published in Journal of the Geological Society (01.11.2013)
Published in Journal of the Geological Society (01.11.2013)
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Effect of docosahexaenoic acid supplementation on retinal function in a patient with autosomal dominant Stargardt-like retinal dystrophy
MacDonald, I M, Hébert, M, Yau, R J, Flynn, S, Jumpsen, J, Suh, M, Clandinin, M T
Published in British journal of ophthalmology (01.02.2004)
Published in British journal of ophthalmology (01.02.2004)
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Quaternary landscape evolution over a strike-slip plate boundary; drainage network response to incipient orogenesis in Sakhalin, Russian Far East
Nicholson, Uisdean, VanLaningham, Sam, Macdonald, David I. M
Published in Geosphere (Boulder, Colo.) (01.06.2013)
Published in Geosphere (Boulder, Colo.) (01.06.2013)
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Magazine Article
A practical diagnostic test for choroideremia
MacDonald, Ian M, Mah, Dean Y, Ho, Y.K, Lewis, Richard Alan, Seabra, Miguel C
Published in Ophthalmology (Rochester, Minn.) (01.09.1998)
Published in Ophthalmology (Rochester, Minn.) (01.09.1998)
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Impacts of sediment supply and local tectonics on clinoform distribution: the seismic stratigraphy of the mid Pleistocene-Holocene Indus Shelf
Limmer, David R., Henstock, Timothy J., Giosan, Liviu, Ponton, Camilo, Tabrez, Ali R., Macdonald, David I. M., Clift, Peter D.
Published in Marine geophysical researches (01.09.2012)
Published in Marine geophysical researches (01.09.2012)
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A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
Petrukhin, Konstantin, Zhang, Kang, Kniazeva, Marina, Han, Min, Li, Wen, Yu, Zhengya, Yang, Zhenglin, Li, Yang, Metzker, Michael L, Allikmets, Rando, Zack, Donald J, Kakuk, Laura E, Lagali, Pamela S, Wong, Paul W, MacDonald, Ian M, Sieving, Paul A, Figueroa, David J, Austin, Christopher P, Gould, Robert J, Ayyagari, Radha
Published in Nature genetics (01.01.2001)
Published in Nature genetics (01.01.2001)
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