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Journal of Medical Genetics|August 29, 2022
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in <i>SMAD4:</i> a nationwide studyAnne Marie Jelsig, Anette Kjeldsen, Lise Lotte Christensen, et al.
Neuromolecular Medicine|September 18, 2015
Association Study of CHRNA7 Promoter Variants with Sensory and Sensorimotor Gating in Schizophrenia Patients and Healthy Controls: A Danish Case-Control StudyBirgitte Bertelsen, Bob Oranje, Linea Melchior, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 30, 2013
Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbiditiesLinea Melchior, Birgitte Bertelsen, Nanette Mol Debes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 28, 2015
A germline chromothripsis event stably segregating in 11 individuals through three generationsBirgitte Bertelsen, Lusine Nazaryan-Petersen, Wei Sun, et al.
Frontiers in Neuroscience|December 7, 2016
Investigation of SNP rs2060546 Immediately Upstream to <i>NTN4</i> in a Danish Gilles de la Tourette Syndrome CohortShanmukha S Padmanabhuni, Rayan Houssari, Ann-Louise Esserlind, et al.
European Journal of Human Genetics : EJHG|February 20, 2014
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndromeBirgitte Bertelsen, Linea Melchior, Lars R Jensen, et al.
Lung Cancer (Amsterdam, Netherlands)|March 21, 2023
New pathogenic germline variants identified in mesotheliomaLaila Belcaid, Birgitte Bertelsen, Karin Wadt, et al.
Endoscopy International Open|December 19, 2022
Distinct gastric phenotype in patients with pathogenic variants in <i>SMAD4:</i> A nationwide cross-sectional studyAnne Marie Jelsig, Niels Qvist, Birgitte Bertelsen, et al.
Psychiatry Research|January 18, 2015
A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHDBirgitte Bertelsen, Linea Melchior, Lars Riff Jensen, et al.
The Journal of Clinical Investigation|May 8, 2020
Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stabilityReihaneh Zarrizi, Martin R Higgs, Karolin Voßgröne, et al.
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