Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Nillesen, W.M."'
Autor:
Jongmans, M., Sistermans, E.A., Rikken, A., Nillesen, W.M., Tamminga, R., Patton, M.A., Maier, E.M., Tartaglia, M., Noordam, C., Burgt, C.J.A.M. van der
Publikováno v:
American Journal of Medical Genetics. Part A, 134, 165-70
American Journal of Medical Genetics. Part A, 134, 2, pp. 165-70
American Journal of Medical Genetics. Part A, 134, 2, pp. 165-70
Item does not contain fulltext Noonan syndrome (NS) is an autosomal dominant disorder, characterized by short stature, minor facial anomalies, and congenital heart defects. In approximately 50% of cases the condition is caused by missense mutations i
Autor:
Winarni, T.I., Mundhofir, F.E.P., Ediati, A., Belladona, M., Nillesen, W.M., Yntema, H.G., Hamel, B.C.J., Faradz, S.M.H., Hagerman, R.J.
Publikováno v:
Clinical Genetics, 83, 3, pp. 263-8
Clinical Genetics, 83, 263-8
Clinical Genetics, 83, 263-8
Item does not contain fulltext Fragile X-associated disorders caused by the premutation of the FMR1 gene, includes the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS affects more than 40% of premutation males over the age of 50 and 75% ov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::08360cb8ee3002ca5c7d5bbe8ca25166
https://hdl.handle.net/2066/117796
https://hdl.handle.net/2066/117796
Autor:
Mundhofir, F.E.P., Nillesen, W.M., Bon, B.W.M. van, Smeets, D., Pfundt, R.P., Ven-Schobers, G. van de, Ruiterkamp-Versteeg, M., Winarni, T.I., Hamel, B.C.J., Yntema, H.G., Faradz, S.M.H.
Publikováno v:
Indian Journal of Human Genetics, 19, 2, pp. 171-8
Indian Journal of Human Genetics, 19, 171-8
Indian Journal of Human Genetics, 19, 171-8
Contains fulltext : 124659.pdf (Publisher’s version ) (Open Access) CONTEXT: Unbalanced subtelomeric chromosomal rearrangements are often associated with intellectual disability (ID) and malformation syndromes. The prevalence of such rearrangements
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e68fb431d849b4a80f1bf0ad3caff37c
https://hdl.handle.net/2066/124659
https://hdl.handle.net/2066/124659
Autor:
Ruiter, M., Pfundt, R., Koolen, D.A., Sistermans, E.A., Nillesen, W.M., Ravenswaaij, C.M.A. van, Vries, B. de, Willemsen, M.A.A.P.
Publikováno v:
Journal of Pediatric Neurology, 8, 391-391
Journal of Pediatric Neurology, 8, 4, pp. 391-391
Journal of Pediatric Neurology, 8, 4, pp. 391-391
Contains fulltext : 89147.pdf (Publisher’s version ) (Closed access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::04addc535be47770df226cbc21d522f9
http://hdl.handle.net/2066/89147
http://hdl.handle.net/2066/89147
Autor:
Kleefstra, T., Koolen, D.A., Nillesen, W.M., Leeuw, N. de, Hamel, B.C.J., Veltman, J.A., Sistermans, E.A., Bokhoven, J.H.L.M. van, Ravenswaaij-Arts, C.M.A. van, Vries, L.B.A. de
Publikováno v:
American Journal of Medical Genetics. Part A, 140, 618-23
American Journal of Medical Genetics. Part A, 140, 6, pp. 618-23
American Journal of Medical Genetics. Part A, 140, 6, pp. 618-23
Contains fulltext : 50829.pdf (Publisher’s version ) (Closed access) In a female patient with mild mental retardation an interstitial subtelomeric 9q34.3 deletion was identified by a multiplex ligation-dependent probe amplification (MLPA) based scr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1e5b65ba06d6ed12d258fb545e309129
http://hdl.handle.net/2066/50829
http://hdl.handle.net/2066/50829
Autor:
Kleefstra, T., Franken, C.E., Arens, Y.H., Ramakers, G.J., Yntema, H.G., Sistermans, E.A., Hulsmans, C.F.C.H., Nillesen, W.M., Bokhoven, J.H.L.M. van, Vries, L.B.A. de, Hamel, B.C.J.
Publikováno v:
Clinical Genetics, 66, 4, pp. 318-26
Clinical Genetics, 66, 318-26
Clinical Genetics, 66, 318-26
Contains fulltext : 58370.pdf (Publisher’s version ) (Closed access) Recently, the polyglutamine-binding protein 1 (PQBP1) gene was found to be mutated in five of 29 families studied with X-linked mental retardation (XLMR) linked to Xp. The reporte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::20608cc9b8c60b678d54c968f8dba44f
https://hdl.handle.net/2066/58370
https://hdl.handle.net/2066/58370
Autor:
Willemsen, M.H., Vulto-van Silfhout, A.T., Nillesen, W.M., Wissink-Lindhout, W.M., van Bokhoven, H., Philip, N., Berry-Kravis, E.M., Kini, U., van Ravenswaaij-Arts, C.M.A., Delle Chiaie, B., Innes, A.M.M., Houge, G., Kosonen, T., Cremer, K., Fannemel, M., Stray-Pedersen, A., Reardon, W., Ignatius, J., Lachlan, K., Mircher, C.
Publikováno v:
Molecular Syndromology; 2012, Vol. 2 Issue 3-5, p202-212, 11p
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