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Søs Bisgaard

20112013
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  • 8 Similar Profiles
von Hippel-Lindau Disease Medicine & Life Sciences
Denmark Medicine & Life Sciences
Mosaicism Medicine & Life Sciences
Alleles Medicine & Life Sciences
Genetic Counseling Medicine & Life Sciences
Guidelines Medicine & Life Sciences
Mutation Medicine & Life Sciences
Semen Medicine & Life Sciences

Research Output 2011 2013

  • 3 Journal article

Von Hippel-Lindau disease (vHL): National clinical guideline for diagnosis and surveillance in Denmark

Binderup, M. L. M., Bisgaard, S. M. L., Harbud, V., Møller, H. U., Gimsing, S., Friis-Hansen, L. J., Hansen, T. V. O., Bagi, P., Knigge, U. P., Kosteljanetz, M., Bøgeskov, L., Thomsen, C., Gerdes, A-M., Ousager, L. B., Sunde, L. & Ousager, L. B., 2013, In : Danish Medical Journal. 60, 12, B4763.

Research output: Contribution to journalJournal articleResearchpeer-review

von Hippel-Lindau Disease
Denmark
Guidelines
Normetanephrine
Metanephrine

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

Thomassen, M., Pedersen, I. S., Vogel, I., Hansen, T. V. O., Brasch-Andersen, C., Brasen, C. L., Crüger, D., Sunde, L., Nielsen, F. C., Jensen, U. B., Bisgaard, S. M. L., Borg, A., Gerdes, A-M. & Kruse, T. A., 2011, In : Breast Cancer Research and Treatment. 128, 1, p. 179-185

Research output: Contribution to journalJournal articleResearchpeer-review

Messenger RNA
Mutation
Denmark
Ovarian Neoplasms
Base Pairing

Mosaicism in segmental darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues

Harboe, T. L., Willems, P., Jespersgaard, C., Poulsen, M. L. M., Sørensen, F. B. & Bisgaard, S. M. L., 2011, In : Dermatology. 222, 4, p. 292-6 5 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Mosaicism
Alleles
Genetic Counseling
Semen
Darier Disease