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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. Visual acuity and amblyopia prevalence in 11- to 12-year-old Danish children from the Copenhagen Child Cohort 2000

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  2. Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

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  3. Perioperative cardiovascular complications following urogynecological operations

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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