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Research Output

  • 2 Journal article

The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

Ernst, A., Le, V. Q., Højland, A. T., Pedersen, I. S., Sørensen, T. H., Bjerregaard, L. L., Lyngbye, T. JB., Gammelager, N. M., Krarup, H. & Petersen, M. B., 2015, In : Molecular Syndromology. 6, 4, p. 181-186 6 p.

Research output: Contribution to journalJournal articleResearchpeer-review

2 Citations (Scopus)

Bannayan-Riley-Ruvalcabas syndrom og juvenil polypose hos en toårig pige

Vibede, L. D., Jensen, U. B., Sørensen, T. H. & Pedersen, L. M., 2012, 174, p. 1614-1615 2 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Activities

  • 5 Organisation or participation in workshops, courses, or seminars
  • 4 Conference organisation or participation

Dansk neuropædiatrisk selskabs årsmøde

Tine Høg Sørensen (Participant)
23 Nov 201224 Nov 2012

Activity: Attending an eventOrganisation or participation in workshops, courses, or seminars

DNPS møde

Tine Høg Sørensen (Participant)
28 Nov 201129 Nov 2011

Activity: Attending an eventOrganisation or participation in workshops, courses, or seminars

Epilepsimøde

Tine Høg Sørensen (Participant)
25 Nov 2011

Activity: Attending an eventOrganisation or participation in workshops, courses, or seminars

Baklofenpumpebehandling af spastikere

Tine Høg Sørensen (Participant)
1 Oct 20114 Oct 2011

Activity: Attending an eventOrganisation or participation in workshops, courses, or seminars

CPOP møde

Tine Høg Sørensen (Participant)
2011

Activity: Attending an eventOrganisation or participation in workshops, courses, or seminars