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Array CGH of ALS patients – new candidate genes

Autor: Waibel, S., Ludolph, A.C., Ropers, H.H., Ullmann, R.

Publikováno v: Aktuelle Neurologie; 20240101, Issue: Preprints

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases : identification of a somatic mosaicism for a POU3F4 missense mutation

Autor: Kok, Y.J.M. de, Cremers, C.W.R.J., Ropers, H.H., Cremers, F.P.M.

Publikováno v: Human Mutation, 10, pp. 207-211
Human Mutation, 10, 3, pp. 207-211
Human Mutation, 10, 207-211

Contains fulltext : 25053___.PDF (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4d1f67f43b40305cf1103d3eaf319c3e
https://hdl.handle.net/2066/25053

Autosomal recessive Melnick-Needless syndrome or ter Haar syndrome?

Autor: Hamel, B.C.J., Draaisma, J.M.T., Pinckers, A.J.L.G., Boetes, C., Hoppe, R., Ropers, H.H., Brunner, H.G.

Publikováno v: American Journal of Medical Genetics, 56, 312-316
American Journal of Medical Genetics, 56, 3, pp. 312-316
American Journal of Medical Genetics, 56, pp. 312-316

Item does not contain fulltext

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::06493a8b775c2643f0d09ea5430f7c33
https://hdl.handle.net/2066/21499

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium

Autor: Portes, V. des, Beldjord, C., Chelly, J., Hamel, B.C.J., Kremer, J.M.J., Smits, A.P.T., Bokhoven, J.H.L.M. van, Ropers, H.H., Claes, S., Fryns, J.P., Ronce, N., Gendrot, C., Toutain, A., Raynaud, M., Moraine, C.

Publikováno v: American Journal of Medical Genetics, 64, 263-265
American Journal of Medical Genetics, 64, pp. 263-265

Item does not contain fulltext

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::aedd22f373343835e775da6633e96a44
https://hdl.handle.net/2066/166800