Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Hol, F.A."'
Autor:
Hogewind, B.F.T., Pennings, R.J.E., Hol, F.A., Kunst, H.P.M., Hoefsloot, E.H., Cruysberg, J.R.M., Cremers, C.W.R.J.
Publikováno v:
Molecular Vision, 16, 26-35
Molecular Vision, 16, pp. 26-35
Molecular Vision, 16, pp. 26-35
Contains fulltext : 88455.pdf (Publisher’s version ) (Open Access) PURPOSE: To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy and deafness. The study is designed as a retrospective o
Publikováno v:
Nederlands Tijdschrift voor Geneeskunde, 152, 2313-6
Nederlands Tijdschrift voor Geneeskunde, 152, 43, pp. 2313-6
Nederlands Tijdschrift voor Geneeskunde, 152, 43, pp. 2313-6
Item does not contain fulltext In 3 young male patients, aged 10, 19 and 21 years respectively, sequential, severe, painless bilateral visual loss occurred. Ophthalmological examination revealed no other abnormalities and this delayed the diagnosis L
Autor:
Kovel, C.G.F. de, Franke, B., Hol, F.A., Lebrec, J.J., Maassen, B.A.M., Brunner, H.G., Padberg, G.W.A.M., Platko, J., Pauls, D.
Publikováno v:
American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 147, 3, pp. 294-300
American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 147, 294-300
American Journal of Medical Genetics. Part B : Neuropsychiatric Genetics, 147, 294-300
Contains fulltext : 71322.pdf (Publisher’s version ) (Closed access) In this study, we attempted to confirm genetic linkage to developmental dyslexia and reading-related quantitative traits of loci that have been shown to be associated with dyslexi
Publikováno v:
Journal of Electromyography and Kinesiology, 16, 568-602. Elsevier Limited
Drost, G, Stegeman, D F, van Engelen, B G M, Smeitink, J A M, Rodenburg, J A & Hol, F A 2006, ' Clinical applications of high-density surface EMG: A systematic review ', Journal of Electromyography and Kinesiology, vol. 16, pp. 568-602 . https://doi.org/10.1016/j.jelekin.2006.09.005
Journal of Electromyography and Kinesiology, 16, 6, pp. 586-602
Journal of Electromyography and Kinesiology, 16, 586-602
Drost, G, Stegeman, D F, van Engelen, B G M, Smeitink, J A M, Rodenburg, J A & Hol, F A 2006, ' Clinical applications of high-density surface EMG: A systematic review ', Journal of Electromyography and Kinesiology, vol. 16, pp. 568-602 . https://doi.org/10.1016/j.jelekin.2006.09.005
Journal of Electromyography and Kinesiology, 16, 6, pp. 586-602
Journal of Electromyography and Kinesiology, 16, 586-602
Contains fulltext : 50824.pdf (Publisher’s version ) (Closed access) High density-surface EMG (HD-sEMG) is a non-invasive technique to measure electrical muscle activity with multiple (more than two) closely spaced electrodes overlying a restricted
Autor:
Knoers, N.V.A.M., Bongers, M.H.F., Beersum, S.E.C. van, Lommen, E., Bokhoven, J.H.L.M. van, Hol, F.A.
Publikováno v:
Journal of the American Society of Nephrology, 11, 1762-1766
Journal of the American Society of Nephrology, 11, pp. 1762-1766
Journal of the American Society of Nephrology, 11, pp. 1762-1766
Item does not contain fulltext
Publikováno v:
American Journal of Medical Genetics. Part A, 140, 20, pp. 2248-50
American Journal of Medical Genetics. Part A, 140, 2248-50
American Journal of Medical Genetics. Part A, 140, 2248-50
Contains fulltext : 50523.pdf (Publisher’s version ) (Closed access)
Publikováno v:
Human Mutation, 1, S145-S147
Human Mutation, 1, pp. S145-S147
Human Mutation, 1, pp. S145-S147
Item does not contain fulltext
Autor:
Coenen, M.J.H., Smeitink, J.A.M., Pots, J.M., Kaauwen, E. van, Trijbels, J.M.F., Hol, F.A., Heuvel, L.P.W.J. van den
Publikováno v:
Journal of Child Neurology, 21, 6, pp. 508-11
Journal of Child Neurology, 21, 508-11
Journal of Child Neurology, 21, 508-11
Contains fulltext : 49849.pdf (Publisher’s version ) (Closed access) The mitochondrial oxidative phosphorylation system is composed of five multiprotein complexes. The fourth complex of this system, cytochrome c oxidase (complex IV), consists of 13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5c74ca32521e99eac7d2347fd7a6fa51
https://hdl.handle.net/2066/49849
https://hdl.handle.net/2066/49849
Publikováno v:
Journal of Inherited Metabolic Disease, 26, 7, pp. 720-2
Journal of Inherited Metabolic Disease, 26, 720-2
Journal of Inherited Metabolic Disease, 26, 720-2
Item does not contain fulltext We describe two children carrying an inherited T899C mutation in the mitochondrial ATPase 6 gene with mild encephalopathy and normal postnatal growth followed by tall stature and obesity. No familial tall stature, endoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0bc7f1d97e76aba4bfc8697408e9560b
https://hdl.handle.net/2066/185179
https://hdl.handle.net/2066/185179
Autor:
Hol, F.A.
Item does not contain fulltext Katholieke Universiteit Nijmegen, 12 mei 1999 Promotor : Ropers, H.H. Co-promotor : Mariman, E.C.M. 120 p.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::11dab94927f18e1bbb432bd43e284694
http://hdl.handle.net/2066/266410
http://hdl.handle.net/2066/266410