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Region Hovedstaden - en del af Københavns Universitetshospital
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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%

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Small Hard Macular Drusen and Associations in 11- to 12-Year-Old Children in the Copenhagen Child Cohort 2000 Eye Study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Genotype and phenotype classification of 29 patients affected by Krabbe disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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ABSTRACT:
OriginalsprogEngelsk
TidsskriftB M C Medical Genetics
Vol/bind13
Sider (fra-til)65
ISSN1471-2350
DOI
StatusUdgivet - 2012

ID: 36600987