Zobrazeno 1 - 9
of 9
pro vyhledávání: '"H P M, Kunst"'
Publikováno v:
Leerboek KNO en Hoofd-Halschirurgie ISBN: 9789036820943
Leerboek KNO en Hoofd-Halschirurgie
Leerboek KNO en Hoofd-Halschirurgie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ea7ac2dff63240ed8cbc2852fb3b036
https://doi.org/10.1007/978-90-368-2095-0_25
https://doi.org/10.1007/978-90-368-2095-0_25
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 163
Patients with facial palsy present with both cosmetic and functional symptoms. When a facial palsy develops quickly (within 72 hours) with no other symptoms, and no cause can be identified, it is probably an idiopathic facial palsy or 'Bell's palsy'.
Publikováno v:
Leerboek KNO en Hoofd-Halschirurgie ISBN: 9789036820943
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f5a6f94defa59ec30986a53cfeb1db5
https://doi.org/10.1007/978-90-368-2095-0_5
https://doi.org/10.1007/978-90-368-2095-0_5
Autor:
J A, Rijken, N D, Niemeijer, M A, Jonker, K, Eijkelenkamp, J C, Jansen, A, van Berkel, H J L M, Timmers, H P M, Kunst, P H L T, Bisschop, M N, Kerstens, K M A, Dreijerink, M F, van Dooren, A N A, van der Horst-Schrivers, F J, Hes, C R, Leemans, E P M, Corssmit, E F, Hensen
Publikováno v:
Clinical genetics. 93(1)
Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwid
Autor:
Fred C.G.J. Sweep, Martin Gotthardt, Arjen R. Mensenkamp, Jeroen van der Laak, Henri J L M Timmers, Jacques W.M. Lenders, Benno Küsters, Ad R. M. M. Hermus, Anouk van Berkel, Tuna Demir, Jyotsna U. Rao, Egbert Oosterwijk, Ron A. Wevers, Dirk H. P. M. Kunst, Johan F. Langenhuijsen, Eric J. W. Visser, Karel Pacak
Publikováno v:
The Journal of Nuclear Medicine (1978), 55, pp. 1253-1259
The Journal of Nuclear Medicine (1978), 55, 1253-1259
Journal of Nuclear Medicine, 55(8), 1253-1259. Society of Nuclear Medicine and Molecular Imaging
The Journal of Nuclear Medicine (1978), 55, 1253-1259
Journal of Nuclear Medicine, 55(8), 1253-1259. Society of Nuclear Medicine and Molecular Imaging
Contains fulltext : 137699.pdf (Publisher’s version ) (Open Access) Pheochromocytomas and paragangliomas (PPGLs) can be localized by (18)F-FDG PET. The uptake is particularly high in tumors with an underlying succinate dehydrogenase (SDH) mutation.
Publikováno v:
Bijblijven. 20:255-262
In dit hoofdstuk worden de verscheidene vormen van congenitale slechthorendheid en doofheid beschreven naar lokalisatie van het gehoorverlies: uitwendig oor – middenoor – binnenoor. Uitwendige oorafwijkingen (major congenitale anomalieen) worden
Publikováno v:
Clinical genetics. 85(6)
Hearing impairment is an extremely heterogeneous disorder, with both environmental as well as genetic causes. This review describes the known genes involved in non-syndromic hearing impairment and their genotype-phenotype correlations where possible.
Autor:
E, van Beelen, J M, Leijendeckers, R J C, Admiraal, P L M, Huygen, L H, Hoefsloot, R J E, Pennings, A F M, Snik, H P M, Kunst
Publikováno v:
Audiologyneuro-otology. 19(2)
We present the case of a Dutch family with a new mutation (c523_528dup) in GATA3 causing HDR syndrome. HDR syndrome is characterised by hypoparathyroidism, deafness and renal defects. In this study, we describe the audiometric characteristics of 5 pa
Autor:
K. Freriks, Catharina C. M. Beerendonk, Ad R. M. M. Hermus, Dirk H. P. M. Kunst, Henri J L M Timmers, Didi D.M. Braat, Janneke Timmermans, Dominique Smeets, Barto J. Otten, Romana T. Netea-Maier, Chris M. Verhaak
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 96, E1517-26
Journal of Clinical Endocrinology and Metabolism, 96, 9, pp. E1517-26
Journal of Clinical Endocrinology and Metabolism, 96, 9, pp. E1517-26
Context: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc98ff34e065730a314791ace411b8d0
http://hdl.handle.net/2066/96365
http://hdl.handle.net/2066/96365