AAAAAA

   
Results: 1-7 |
Results: 7
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation
Authors: Yntema, HG van den Helm, B Kissing, J van Duijnhoven, G Poppelaars, F Chelly, J Moraine, C Fryns, JP Hamel, BCJ Heilbronner, H Pander, HJ Brunner, HG Ropers, HH Cremers, FPM van Bokhoven, H
Citation: Hg. Yntema et al., A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation, GENOMICS, 62(3), 1999, pp. 332-343
X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3
Authors: Siderius, LE Hamel, BCJ van Bokhoven, H de Jager, F van den Helm, B Kremer, H Heineman-de Boer, JA Ropers, HH Mariman, ECM
Citation: Le. Siderius et al., X-linked mental retardation associated with cleft lip palate maps to Xp11.3-q21.3, AM J MED G, 85(3), 1999, pp. 216-220
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis
Authors: Hamel, BCJ Smits, APT van den Helm, B Smeets, DFCM Knoers, NVAM van Roosmalen, T Thoonen, GHJ Assman-Hulsmans, CFCH Ropers, HH Mariman, ECM Kremer, H
Citation: Bcj. Hamel et al., Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis, AM J MED G, 85(3), 1999, pp. 290-304
X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region
Authors: Yntema, HG van den Helm, B Knoers, NVAM Smits, APT van Roosmalen, T Smeets, DFCM Mariman, ECM van der Burgt, I van Bokhoven, H Ropers, HH Kremer, H Hamel, BCJ
Citation: Hg. Yntema et al., X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region, AM J MED G, 85(3), 1999, pp. 305-308
A new X linked neurodegenerative syndrome with metal retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region (vol 36, pg 140, 1999)
Authors: Hamel, BCJ Wesseling, P Renier, WO van den Helm, B Ropers, HH Kremer, H Mariman, ECM
Citation: Bcj. Hamel et al., A new X linked neurodegenerative syndrome with metal retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region (vol 36, pg 140, 1999), J MED GENET, 36(8), 1999, pp. 654-654
A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region
Authors: Hamel, BCJ Wesseling, P Renier, WO van den Helm, B Ropers, HH Kremer, H Mariman, ECM
Citation: Bcj. Hamel et al., A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region, J MED GENET, 36(2), 1999, pp. 140-143
A second gene for autosomal dominant Mobius syndrome is localized to chromosome 10q, in a Dutch family
Authors: Verzijl, HTFM van den Helm, B Veldman, B Hamel, BCJ Kuyt, LP Padberg, GW Kremer, H
Citation: Htfm. Verzijl et al., A second gene for autosomal dominant Mobius syndrome is localized to chromosome 10q, in a Dutch family, AM J HU GEN, 65(3), 1999, pp. 752-756
Risultati: 1-7 |