Diagnostic genome sequencing improves diagnostic yield in a single center study of 100 patients with non-syndromic and syndromic hearing impairment.

Autor: Dahl Rendtorff, N.¹, Tranebjærg, L.^1,2, Bertelsen, M.¹

Publikováno v: Journal of Hearing Science. Sep2024, Vol. 14 Issue 3, p122-123. 2p.

Prevalence of Machado-Joseph disease (MJD/SCA3) explained by migration and multiple founder effects

Autor: Martins, S., Costa, I. P. D., Giunti, P., Watanabe, M., Sasaki, H., Almeida, B. C., Amorim, A., Gaspar, C., Nicholson, G., Saraiva-Pereira, M. L., Tsuji, S., Li, Q., Chen, S., Landoure, G., Maciel, P., Zaltzman, R., Sharony, R., Zhou, Y., Barros, J., Loureiro, J. L., Cruz, V. T., Ruano, L., Brunt, E. R. P., Corral-Juan, M. Marc, Hsieh, M., Tranebjaerg, L., Olajumoke, O., Ogun, S. A., Finkel, M. F., Gordon, C., Cornejo-Olivas, M., Fischbeck, K., Matilla-Duenas, A., Volpini, V., Riess, O., Wu, Z., Rouleau, G. A., Jardim, L. B., Giovanni Stevanin, Brice, A., Coutinho, P., Soong, B., Ranum, L. P., Durr, A., Sequeiros, J.

Publikováno v: European Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
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Web of Science
CIÊNCIAVITAE

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4a28b6668adcf3df2ca3b0f872c4c6fb
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4950

HARS2 sequence variants identified in young individuals with severe sensorineural hearing impairment

Autor: Karstensen, H., Rendtorff, N., Hindhede, L., Stein, A., Hartmann-Petersen, R., Lindorff-Larsen, K., Hojland, A., Petersen, M., Tranebjaerg, L.

Publikováno v: Karstensen, H, Rendtorff, N, Hindhede, L, Stein, A, Hartmann-Petersen, R, Lindorff-Larsen, K, Hojland, A, Petersen, M & Tranebjaerg, L 2019, ' HARS2 sequence variants identified in young individuals with severe sensorineural hearing impairment ', European Journal of Human Genetics, vol. 27, no. Suppl. 1, P02.18A, pp. 50-51 . < https://www.nature.com/articles/s41431-019-0404-7 >

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::dcbe5368e10ae76dc16bebb5ee524053
https://vbn.aau.dk/da/publications/73fe28ce-9818-46dc-bb2d-2b493d9e165d

The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

Autor: Gedeon, A.K., Tiller, G.E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I.A., Savarirayan, R., Cole, W.G., Rimoin, D.L., Kousseff, B.G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J.C.

Publikováno v: In The American Journal of Human Genetics 2001 68(6):1386-1397

Auditory disabilities, individual fitting targets, and the compensation power of hearing aids

Autor: Lansbergen, Simon, de Ronde-Brons, Inge, Boymans, Monique, Soede, Wim, Dreschler, Wouter A., Santurette, S, Dau, T, Christensen-Dalsgaard, J, Tranebjærg, L, Andersen, T, Poulsen, T

Publikováno v: Adaptive Processes in hearing: Proceedings of the International Symposium on Auditory and Audiological Research, 6, 191-198

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::db8d332cbf0cfa7de7c3be1abdc3e2b4
https://pure.amc.nl/en/publications/auditory-disabilities-individual-fitting-targets-and-the-compensation-power-of-hearing-aids(fa100214-252f-4ae9-9a91-6043d1cf43b5).html