Zobrazeno 1 - 10 of 258 pro vyhledávání: '"Kimberling, W.J."'
1
Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a
Autor: Pennings, R.J.E., Huygen, P.L.M., Orten, D.J., Wagenaar, M., Aarem, A. van, Kremer, J.M.J., Kimberling, W.J., Cremers, C.W.R.J., Deutman, A.F.
Publikováno v: Acta Ophthalmologica Scandinavica, 82, 131-9
Acta Ophthalmologica Scandinavica, 82, 2, pp. 131-9
Contains fulltext : 58539.pdf (Publisher’s version ) (Closed access) PURPOSE: To evaluate visual impairment in Usher syndrome 1b (USH1b) and Usher syndrome 2a (USH2a). METHODS: We carried out a retrospective study of 19 USH1b patients and 40 USH2a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e513306145273954a4b1773eb232bffb
https://hdl.handle.net/2066/58539
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2
[From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)]
Autor: Pennings, R.J.E., Kremer, J.M.J., Deutman, A.F., Kimberling, W.J., Cremers, C.W.R.J.
Publikováno v: Nederlands Tijdschrift voor Geneeskunde, 146, 2354-8
Nederlands Tijdschrift voor Geneeskunde, 146, 49, pp. 2354-8
Item does not contain fulltext Usher syndrome is an autosomal recessively inherited disease, characterised by sensorineural hearing loss, tapetoretinal degeneration and in some cases vestibular problems. Based on the clinical heterogeneity, the disea
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::175d436a7238adf35eaf1e91cdc9a6e5
https://hdl.handle.net/2066/144599
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3
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation
Autor: Dreyer, B., Tranebjaerg, L., Brox, V., Rosenberg, T., Moller, C.G., Beneyto, M., Weston, M.D., Kimberling, W.J., Cremers, C.W.R.J., Liu, X.Z., Nilssen, O.
Publikováno v: American Journal of Human Genetics, 69, 228--34
American Journal of Human Genetics, 69, 1, pp. 228--34
Item does not contain fulltext Usher syndrome type IIa is an autosomal recessive disorder characterized by mild-to-severe hearing loss and progressive visual loss due to retinitis pigmentosa. The mutation that most commonly causes Usher syndrome type
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::941b14e8f7c553c8f73b7090b70b7cb2
https://hdl.handle.net/2066/144608
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5
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR
Autor: Kochhar, A., Orten, D.J., Sorensen, J.L., Fischer, S.M., Cremers, C.W.R.J., Kimberling, W.J., Smith, R.J.H.
Publikováno v: Human Mutation, 29, 4, pp. 565-565
Human Mutation, 29, 565-565
Contains fulltext : 71098.pdf (Publisher’s version ) (Closed access) Branchio-oto-renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f5fa8e2f69a4f513969d75dee45bd70a
https://hdl.handle.net/2066/71098
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6
Carriers of the Usher type IB: Is audiometric identification possible?
Autor: Wagenaar, M., Snik, A.F.M., Kimberling, W.J., Cremers, C.W.R.J.
Publikováno v: American Journal of Otology, 17, 6, pp. 853-855
American Journal of Otology, 17, 853-855
American Journal of Otology, 17, pp. 853-855
Contains fulltext : 23471___.PDF (Publisher’s version ) (Open Access)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5aa1114215c5add346aa1d62a8ed8530
https://hdl.handle.net/2066/147240
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7
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II
Autor: Pennings, R.J.E., Brinke, H. te, Weston, M.D., Claassen, A.M.W., Orten, D.J., Weekamp, H., Aarem, A. van, Huygen, P.L.M., Deutman, A.F., Hoefsloot, L.H., Cremers, F.P.M., Cremers, C.W.R.J., Kimberling, W.J., Kremer, J.M.J.
Publikováno v: Human Mutation, 24, 2, pp. 185-185
Human Mutation, 24, 185-185
Contains fulltext : 59156.pdf (Publisher’s version ) (Closed access) Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular r
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fa6d96c1355d791bda256987739171c9
https://hdl.handle.net/2066/59156
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8
Hearing impairment in Usher's syndrome
Autor: Pennings, R.J.E., Wagenaar, M., Aarem, A. van, Huygen, P.L.M., Kimberling, W.J., Cremers, C.W.R.J.
Publikováno v: Advances in Oto-Rhino-Laryngology, 61, 184-91
Advances in Oto-Rhino-Laryngology, 61, pp. 184-91
Item does not contain fulltext
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5031f9f77ef370736ace00beb81e0041
http://hdl.handle.net/2066/185352
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10
Narrowing the genetic interval and yeast artificial chromosome map in the Branchio-Oto-Renal region on chromosome 8q
Autor: Kumar, S., Kimberling, W.J., Lanyi, A., Sumegi, J., Pinnt, J., Ing, P.S., Tinley, S., Marres, H.A.M., Cremers, C.W.R.J.
Publikováno v: Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 31, 1, pp. 71-79
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 31, 71-79
Contains fulltext : 22560___.PDF (Publisher’s version ) (Open Access)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5fd6a4eec0f4b11df85d5341290d333a
https://hdl.handle.net/2066/22560
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