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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

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  1. Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

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  2. Studies of association of AGPAT6 variants with type 2 diabetes and related metabolic phenotypes in 12,068 Danes

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  3. Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

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  4. Identification of 3 novel VHL germ-line mutations in Danish VHL patients

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  1. Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

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  2. Five-Year Change in Choroidal Thickness in Relation to Body Development and Axial Eye Elongation: The CCC2000 Eye Study

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  3. Macular spatial distribution of preserved autofluorescence in patients with choroideremia

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ABSTRACT:
Original languageEnglish
JournalB M C Medical Genetics
Volume13
Pages (from-to)65
ISSN1471-2350
DOIs
Publication statusPublished - 2012

ID: 36600987