David M Markie

David M Markie

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David M Markie

David M Markie

Publications by authors named "David M Markie"

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16Publications

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An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.

J Clin Endocrinol Metab 2020 Mar;105(3)

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1210/clinem/dgaa034DOI Listing
March 2020

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.

Eur J Hum Genet 2019 Dec 2. Epub 2019 Dec 2.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.

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http://dx.doi.org/10.1038/s41431-019-0546-7DOI Listing
December 2019

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Am J Hum Genet 2015 Apr 26;96(4):623-30. Epub 2015 Mar 26.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385193PMC
April 2015

Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.

Mol Vis 2009 Aug 26;15:1700-8. Epub 2009 Aug 26.

Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2731832PMC
August 2009