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The Journal of Molecular Diagnostics : JMD|July 6, 2011
Three new loci for determining x chromosome inactivation patternsBirgitte Bertelsen, Zeynep Tümer, Kirstine Ravn
Familial Cancer|June 7, 2020
Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndromeAnne Marie Jelsig, Birgitte Bertelsen, Isabel Forss, et al.
Case Reports in Genetics|September 6, 2019
Novel <i>SUFU</i> Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin SyndromeGustav Askaner, Ulrikke Lei, Birgitte Bertelsen, et al.
Thyroid Research|April 30, 2023
Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case reportArne Heydorn, Birgitte Bertelsen, Rúna Louise Mortansdóttir Nolsöe, et al.
Psychiatric Genetics|March 27, 2013
Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literatureSaiqa Yasmeen, Linea Melchior, Birgitte Bertelsen, et al.
Ugeskrift for Laeger|February 22, 2012
[The genetics of Gilles de la Tourette syndrome]Birgitte Bertelsen, Linea Melchior, Nanette Mol Debes, et al.
Neurogenetics|August 31, 2013
Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literatureBirgitte Bertelsen, Nanette Mol Debes, Lena E Hjermind, et al.
Human Mutation|March 2, 2016
Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous RecombinationLusine Nazaryan-Petersen, Birgitte Bertelsen, Mads Bak, et al.
Neurobiology of Aging|August 20, 2011
Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALSZeynep Tümer, Birgitte Bertelsen, Ole Gredal, et al.
BMC Medical Genomics|January 29, 2024
Whole genome sequencing in clinical practiceFrederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, et al.
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