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Bjørn Kristensen Fabian-Jessing

20182018
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  • 5 Similar Profiles
Ocular Albinism Medicine & Life Sciences
Dystonia Medicine & Life Sciences
Sensorineural Hearing Loss Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Cerebellar Ataxia Medicine & Life Sciences
Infertility Medicine & Life Sciences
Protein Kinase C Medicine & Life Sciences
Disease Progression Medicine & Life Sciences

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Research Output 2018 2018

  • 2 Journal article
3 Citations (Scopus)
122 Downloads (Pure)

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

Chelban, V., Wiethoff, S., Fabian-Jessing, B. K., Haridy, N. A., Khan, A., Efthymiou, S., Becker, E. B. E., O'Connor, E., Hersheson, J., Newland, K., Hojland, A. T., Gregersen, P. A., Lindquist, S. G., Petersen, M. B., Nielsen, J. E., Nielsen, M., Wood, N. W., Giunti, P. & Houlden, H., 2018, In : Movement Disorders. 33, 7, p. 1119-1129

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Dystonia
Genetic Association Studies
Cerebellar Ataxia
Protein Kinase C
Disease Progression

Ocular albinism with infertility and late-onset sensorineural hearing loss

Fabian-Jessing, B. K., Vestergaard, E. M., Plomp, A. S., Bergen, A. A., Dreschler, W. A., Duno, M., Winiarska, B. S., Neumann, L., Gaihede, M., Vorum, H. & Petersen, M. B., 1 Jul 2018, In : American Journal of Medical Genetics. Part A. 176, 7, p. 1587-1593 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Ocular Albinism
Sensorineural Hearing Loss
Infertility
Gene Deletion
Genes