Lisbeth Tranebjærg
Professor emeritus.
- 2017
- Published
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
Tracewska-Siemiątkowska, A., Haer-Wigman, L., Bosch, D. G. M., Nickerson, D., Bamshad, M. J., van de Vorst, M., Rendtorff, N. D., Möller, C., Kjellström, U., Andréasson, S., Cremers, F. P. M., Tranebjærg, Lisbeth & University of Washington Center for Mendelian Genomics, U. O. W. C. F. M. G., 11 Dec 2017, In: Genes. 8, 12, 9 p., 381.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Zazo Seco, C., Castells-Nobau, A., Joo, S-H., Schraders, M., Foo, J. N., van der Voet, M., Velan, S. S., Nijhof, B., Oostrik, J., de Vrieze, E., Katana, R., Mansoor, A., Huynen, M., Szklarczyk, R., Oti, M., Tranebjærg, L., van Wijk, E., Scheffer-de Gooyert, J. M., Siddique, S., Baets, J. & 10 others, , Feb 2017, In: Disease models & mechanisms. 10, p. 105-118 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
Tingaud-Sequeira, A., Raldúa, D., Lavie, J., Mathieu, G., Bordier, M., Knoll-Gellida, A., Rambeau, P., Coupry, I., André, M., Malm, E., Möller, C., Andréasson, S., Rendtorff, N. D., Tranebjærg, Lisbeth, Koenig, M., Lacombe, D., Goizet, C. & Babin, P. J., Feb 2017, In: Neurobiology of Disease. 98, p. 36-51 16 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
Chattaraj, P., Munjal, T., Honda, K., Rendtorff, N. D., Ratay, J. S., Muskett, J. A., Risso, D. S., Roux, I., Gertz, E. M., Schäffer, A. A., Friedman, T. B., Morell, R. J., Tranebjærg, Lisbeth & Griffith, A. J., 2017, In: Journal of Medical Genetics. 54, 10, p. 665-673 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia
Astuti, D., Sabir, A., Fulton, P., Zatyka, M., Williams, D., Hardy, C., Milan, G., Favaretto, F., Yu-Wai-Man, P., Rohayem, J., López de Heredia, M., Hershey, T., Tranebjaerg, L., Chen, J-H., Chaussenot, A., Nunes, V., Marshall, B., McAfferty, S., Tillmann, V., Maffei, P. & 14 others, , 2017, In: Human Mutation. 38, 7, p. 764-777Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy
Liu, Y. P., Bosch, D. G. M., Siemiatkowska, A. M., Rendtorff, N. D., Boonstra, F. N., Möller, C., Tranebjærg, Lisbeth, Katsanis, N. & Cremers, F. P. M., 2017, In: Ophthalmic Genetics. 38, 2, p. 127-132 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 1571395
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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
179
downloads
Usher syndrome in Denmark: mutation spectrum and some clinical observations
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
154
downloads
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
Research output: Contribution to journal › Journal article › Research › peer-review
Published