Zobrazeno 1 - 10
of 286
pro vyhledávání: '"Willems, P.J."'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
In European Journal of Radiology 2001 40(3):208-217
The SMAD-binding domain of SKI: A hotspot for de novo mutations causing Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome (SGS) is a rare, systemic connective tissue disorder characterized by craniofacial, skeletal, and cardiovascular manifestations that show a significant overlap with the features observed in the Marfan (MFS) and Loeys-Diet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::75d5ce1c83cc22d0cebdc379384965ab
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087936
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087936
Publikováno v:
Immunology. May75, Vol. 28 Issue 5, p897-907. 11p.
Autor:
Wessels, M.W., Catsman-Berrevoets, C.E., Mancini, G.M.S., Breuning, M.H., Hoogeboom, J.J., Stroink, H., Frohn-Mulder, I.M., Coucke, P.J., Paepe, A.D., Niermeijer, M.F., Willems, P.J.
Publikováno v:
American Journal of Medical Genetics. Part A, 131A, 2, pp. 134-43
American Journal of Medical Genetics. Part A, 131A, 134-43
American Journal of Medical Genetics. Part A, 131A, 134-43
Contains fulltext : 59229.pdf (Publisher’s version ) (Closed access) Arterial tortuosity syndrome (ATS) is a rare condition with autosomal recessive inheritance characterized by connective tissue abnormalities. The most specific clinical findings a
Autor:
Van Camp, Guy, van Thienen, Marie-Noëlle, Handig, I., van Roy, B., Rao, V.S., Milunsky, A., Read, A.P., Baldwin, C.T., Farrer, L.A., Bonduelle, M., Standaert, L., Meire, F., Willems, P.J.
Publikováno v:
Journal of medical genetics
Waardenburg syndrome (WS) is an autosomal dominant disorder characterised by pigmentary abnormalities and sensorineural deafness. It is subcategorised into type 1 (WS1) and type 2 (WS2) on the basis of the presence (WS1) or absence (WS2) of dystopia
Publikováno v:
Human Molecular Genetics, 4, 1, pp. 45-49
Human Molecular Genetics, 4, 45-49. Oxford univ press united kingdom
Human Molecular Genetics, 4, 45-49. Oxford univ press united kingdom
Item does not contain fulltext
Autor:
Camp, G. van, Coucke, P., Balemans, W., Velzen, D. van, Bilt, C. van de, Laer, L. van, Smith, R.J.H., Fukushima, K., Padberg, G.W., Frants, R.R., Heyning, P. van de, Smith, S.D., Huizing, E.H., Willems, P.J.
Publikováno v:
Human Molecular Genetics, 4, 2159-2163
Human Molecular Genetics, 4, 11, pp. 2159-2163
Human Molecular Genetics, 4, 11, pp. 2159-2163
Contains fulltext : 20568___.PDF (Publisher’s version ) (Open Access)
Autor:
Ijzerman, T.H., Schaper, N.C., Melai, T., Blijham, P.J., Meijer, K., Willems, P.J., Savelberg, H.H.
Publikováno v:
Muscle & Nerve, 44(2), 241-245. Wiley
Muscle and Nerve, 44, 2, pp. 241-5
Muscle and Nerve, 44, 241-5
Muscle and Nerve, 44, 2, pp. 241-5
Muscle and Nerve, 44, 241-5
Item does not contain fulltext INTRODUCTION: Type 2 diabetes mellitus (DM2) patients may have decreased muscle strength. This decline can have multiple causes, among them diabetic polyneuropathy (DPN). We sought to determine the effect of nerve deter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::942cbc5a45e472b9619d1aa31242faeb
https://cris.maastrichtuniversity.nl/en/publications/40a0ae12-99d3-40cb-8b51-6a9cad633e7b
https://cris.maastrichtuniversity.nl/en/publications/40a0ae12-99d3-40cb-8b51-6a9cad633e7b