Zobrazeno 1 - 10
of 1 013
pro vyhledávání: '"Lissens W"'
Publikováno v:
In Reproductive BioMedicine Online 2011 22(1):65-71
Autor:
Van Coster, R.N., Gerlo, E.A., Giardina, T.G., Engelke, U.F., Smet, J.E., De Praeter, C.M., Meersschaut, V.A., De Meirleir, L.J., Seneca, S.H., Devreese, B., Leroy, J.G., Herga, S., Perrier, J.P., Wevers, R.A., Lissens, W.
Publikováno v:
In Biochemical and Biophysical Research Communications 2005 338(3):1322-1326
Autor:
Lissens, W., Vreken, P., Barth, P. G., Wijburg, F. A., Ruitenbeek, W., Wanders, R. J. A., Seneca, S., Liebaers, I., De Meirleir, L., Wanders, R J (AUTHOR)
Publikováno v:
European Journal of Pediatrics. 1999, Vol. 158 Issue 10, p853-857. 5p.
Akademický článek
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Autor:
Amrom, D., Tanyalcin, Ibrahim, Verhelst, H., Deconinck, N., Brouhard, Gary, Decarie, Jean-Claude, Tim, Vanderhasselt, Das, S., Hamdan, Fadi F1, Lissens, W., Michaud, Jacques, Jansen, Anna
Publikováno v:
CLINICAL GENETICS
Background: Dominant mutations in TUBB2B have been reported in patients with polymicrogyria. We further explore the phenotype associated with mutations in TUBB2B. Methods: Twenty patients with polymicrogyria (5 unilateral) were tested for mutations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ea215e6227b5b2ce0ed0d2e5029924d9
https://biblio.ugent.be/publication/5658787
https://biblio.ugent.be/publication/5658787
Autor:
Amrom, D., Tanyalcin, Ibrahim, Verhelst, Helene, Deconinck, N., Brouhard, Gary, Decarie, Jean-Claude, Tim, Vanderhasselt, Das, Soma, Hamdan, Fadi F1, Lissens, W., Michaud, Jacques, Jansen, Anna
Background: Dominant mutations in TUBB2B have been reported in patients with polymicrogyria. We further explore the phenotype associated with mutations in TUBB2B. Methods: Twenty patients with polymicrogyria (5 unilateral) were tested for mutations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::6e193b080a9cf71025c7c98dfa03bb2c
https://hdl.handle.net/20.500.14017/0658ca91-4000-4f12-b0ae-0602a297f150
https://hdl.handle.net/20.500.14017/0658ca91-4000-4f12-b0ae-0602a297f150
Autor:
Bujan, N, Arias, A, Montero, R, Garcia-Villoria, J, Lissens, W, Seneca, S, Espinos, C, De Meirleir, L, Artuch-Iriberri R, Briones, P, Ribes, A
Publikováno v:
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::6255bf44dfc4eb4a55d951be2852a106
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21559
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21559
Autor:
Liu, J., Lissens, W.
Publikováno v:
Lancet. 5/16/1992, Vol. 339 Issue 8803, p1190. 3p. 2 Charts.
Autor:
Fiumara, Agata, Barone, RITA MARIA ELISA, Arena, A, Filocamo, M, Lissens, W, Pavone, L, Sorge, G.
Krabbe leukodystrophy (KD) is a neurodegenerative lysosomal disorder caused by mutations in the galactocerebrosidase (GALC) gene. Different clinical forms are described based on the age at onset. In reported series, the early infantile form (EIKD) ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8dc218136aa8fc7b261355f98b96f388
https://biblio.vub.ac.be/vubir/krabbe-leukodystrophy-in-a-selected-population-with-high-rate-of-late-onset-forms-longer-survival-linked-to-c121ga-pgly41ser-mutation(94007906-b5d8-47af-8193-8738095878d0).html
https://biblio.vub.ac.be/vubir/krabbe-leukodystrophy-in-a-selected-population-with-high-rate-of-late-onset-forms-longer-survival-linked-to-c121ga-pgly41ser-mutation(94007906-b5d8-47af-8193-8738095878d0).html
Rationale: Mutations in the a-1a Tubulin (TUBA1A) gene have recently been described in patients with malformations of cortical development ranging from perisylvian to posteriorly predominant pachygyria with associated malformations of the corpus call
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::e6c309e6b79bc0fd089647aaabf458fa
https://biblio.vub.ac.be/vubir/neonatal-seizures-and-microcephaly-due-to-a-novel-mutation-in-tubaia(dff74a12-7608-40f1-813e-7fc8e8605639).html
https://biblio.vub.ac.be/vubir/neonatal-seizures-and-microcephaly-due-to-a-novel-mutation-in-tubaia(dff74a12-7608-40f1-813e-7fc8e8605639).html