Zobrazeno 1 - 10
of 476
pro vyhledávání: '"Gabreëls, F."'
Publikováno v:
Journal of Epidemiology and Community Health (1979-), 1997 Aug 01. 51(4), 350-353.
Externí odkaz:
https://www.jstor.org/stable/25568495
Publikováno v:
British Journal of Industrial Medicine, 1993 Oct 01. 50(10), 945-954.
Externí odkaz:
https://www.jstor.org/stable/27727718
Publikováno v:
British Journal of Industrial Medicine, 1990 Sep 01. 47(9), 580-588.
Externí odkaz:
https://www.jstor.org/stable/27727050
Autor:
van Domburg, P. H., Willemsen, M. A., Rotteveel, J. J., de Jong, J. G., Thijssen, H. O., Heerschap, A., Cruysberg, J. R., Wanders, R. J., Gabreëls, F. J., Steijlen, P. M.
Publikováno v:
Neurology, 52(7), 1345-1352. Lippincott Williams and Wilkins
OBJECTIVE: To determine the spectrum of clinical and MRI/1H MRS features of patients with fatty aldehyde dehydrogenase (FALDH) deficiency. BACKGROUND: The Sjogren-Larsson syndrome (SLS) was originally defined as a clinical triad consisting of ichthyo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::8003cde494f8ba98651dd70b15d87d16
https://pure.amc.nl/en/publications/sjoegrenlarsson-syndrome-clinical-and-mrimrs-findings-in-faldhdeficient-patients(0d9e45bb-5cd7-4680-95c9-3bfcd53bffe3).html
https://pure.amc.nl/en/publications/sjoegrenlarsson-syndrome-clinical-and-mrimrs-findings-in-faldhdeficient-patients(0d9e45bb-5cd7-4680-95c9-3bfcd53bffe3).html
Autor:
van der Put, N M, Gabreëls, F, Stevens, E M, Smeitink, J A, Trijbels, F J, Eskes, T K, van den Heuvel, L P, Blom, H J
Recently, we showed that homozygosity for the common 677(C-->T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the enzyme, is a risk factor for neural-tube defects (NTDs). We now report on another mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9753d25ea280c2be9e701193c05f6170
https://europepmc.org/articles/PMC1377082/
https://europepmc.org/articles/PMC1377082/
Publikováno v:
Developmental Medicine and Child Neurology, 37, 3, pp. 45-45
Developmental Medicine and Child Neurology, 37, 45-45
Developmental Medicine and Child Neurology, 37, 45-45
Contains fulltext : 22173___.PDF (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7e6c5f62c7d22fe54ef116b1ea3624cf
https://hdl.handle.net/2066/22173
https://hdl.handle.net/2066/22173
Autor:
Mariman, E. C., Gabreëls-Festen, A. A., van Beersum, S. E., Valentijn, L. J., Baas, F., Bolhuis, P. A., Jongen, P. J., Ropers, H. H., Gabreëls, F. J.
Publikováno v:
Annals of neurology, 36(4), 650-655. John Wiley and Sons Inc.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder of the peripheral nerves leading to increased susceptibility to mechanical traction or compression. Some patients have been shown to be carriers of a 1.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::ca2ec7038ce734d728ef0f464e426abb
https://pure.amc.nl/en/publications/prevalence-of-the-15mb-17p-deletion-in-families-with-hereditary-neuropathy-with-liability-to-pressure-palsies(fccbcf8a-93f0-4da5-bf16-d78e6eb36a40).html
https://pure.amc.nl/en/publications/prevalence-of-the-15mb-17p-deletion-in-families-with-hereditary-neuropathy-with-liability-to-pressure-palsies(fccbcf8a-93f0-4da5-bf16-d78e6eb36a40).html
Autor:
Verrips, A., Lycklama à Nijeholt, G. J., Barkhof, F., Van Engelen, B. G. M., Wesseling, P., Luyten, J. A. F. M., Wevers, R. A., Stam, J., Wokke, J. H. J., van den Heuvel, L. P. W. J., Keyser, A., Gabreëls, F. J. M., Nijeholt, G J, Van Engelen, B G, Luyten, J A, Wokke, J H, van den Heuvel, L P, Gabreëls, F J
Publikováno v:
Brain: A Journal of Neurology; Aug1999, Vol. 122 Issue 8, p1589-1595, 7p
Akademický článek
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