Výsledky vyhledávání - "Helm, L.J.M. van den"

X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

Autor: Yntema, H.G., Helm, L.J.M. van den, Knoers, N.V.A.M., Smits, A.P.T., Roosmalen, T. van, Smeets, D.F.C.M., Mariman, E.C.M., Burgt, C.J.A.M. van der, Bokhoven, J.H.L.M. van, Ropers, H.H., Kremer, J.M.J., Hamel, B.C.J.

Publikováno v: American Journal of Medical Genetics, 85, pp. 305-330
American Journal of Medical Genetics, 85, 305-330

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::10f0ea3bae9860e9d6cf99bc43e5c95c
https://hdl.handle.net/2066/166799

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Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea

Autor: Lith-Verhoeven, J.J. van, Cremers, F.P.M., Helm, L.J.M. van den, Hoyng, C.B., Deutman, A.F.

Publikováno v: Molecular Vision, 9, 138-43
Molecular Vision, 9, pp. 138-43

Contains fulltext : 142421.pdf (Publisher’s version ) (Open Access) PURPOSE: Butterfly-shaped macular dystrophy (BSMD) has so far only been associated with mutations in the peripherin/RDS gene. The initial aim of our study was to investigate the pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fcc1c69b1b42b724b4de9fa908439375
http://hdl.handle.net/2066/142421

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X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

Autor: Siderius, L.E., Hamel, B.C.J., Bokhoven, J.H.L.M. van, Jager, F. de, Helm, L.J.M. van den, Kremer, J.M.J., Heineman-de Boer, J.A., Ropers, H.H., Mariman, E.C.M.

Publikováno v: American Journal of Medical Genetics, 64, pp. 216-220
American Journal of Medical Genetics, 64, 216-220

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b1f15808ba3503d3983d659619fe7275
https://hdl.handle.net/2066/166797

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A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomeylination, and early death maps to the pericentromeric region

Autor: Hamel, B.C.J., Wesseling, P., Renier, W.O., Helm, L.J.M. van den, Ropers, H.H., Kremer, J.M.J., Mariman, E.C.M.

Publikováno v: Journal of Medical Genetics, 36, 140-143
Journal of Medical Genetics, 36, pp. 140-143

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::28e5f7aec693ea02f1272ed4c704f6d3
http://hdl.handle.net/2066/166974

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Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis

Autor: Hamel, B.C.J., Smits, A.P.T., Helm, L.J.M. van den, Smeets, D.F.C.M., Knoers, N.V.A.M., Roosmalen, T. van, Thoonen, G.H.J., Assman-Hulsmans, C., Ropers, H.H., Mariman, E.C.M., Kremer, J.M.J.

Publikováno v: American Journal of Medical Genetics, 85, 290-304
American Journal of Medical Genetics, 85, pp. 290-304

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::54445601176e0f78e8c0e151427c809a
http://hdl.handle.net/2066/129447

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