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Results: 1-9 |
Results: 9
Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13)
Authors: de Vries, BBA Lees, M Knight, SJL Regan, R Corney, D Flint, J Barnicoat, A Winter, RM
Citation: Bba. De Vries et al., Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13), AM J MED G, 99(4), 2001, pp. 314-319
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist
Authors: de Vries, BBA White, SM Knight, SJL Regan, R Homfray, T Young, ID Super, M McKeown, C Splitt, M Quarrell, OWJ Trainer, AH Niermeijer, MF Malcolm, S Flint, J Hurst, JA Winter, RM
Citation: Bba. De Vries et al., Clinical studies on submicroscopic subtelomeric rearrangements: a checklist, J MED GENET, 38(3), 2001, pp. 145-150
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
Authors: De Vries, BBA Knight, SJL Homfray, T Smithson, SF Flint, J Winter, RM
Citation: Bba. De Vries et al., Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?, J MED GENET, 38(3), 2001, pp. 175-178
Screening chromosome ends for learning disability - Small chromosomal rearrangements may be behind idiopathic learning disability
Authors: Knight, SJL Flint, J
Citation: Sjl. Knight et J. Flint, Screening chromosome ends for learning disability - Small chromosomal rearrangements may be behind idiopathic learning disability, BR MED J, 321(7271), 2000, pp. 1240-1240
Perfect endings: a review of subtelomeric probes and their use in clinicaldiagnosis
Authors: Knight, SJL Flint, J
Citation: Sjl. Knight et J. Flint, Perfect endings: a review of subtelomeric probes and their use in clinicaldiagnosis, J MED GENET, 37(6), 2000, pp. 401-409
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome
Authors: de Vries, BBA Bitner-Glindzicz, M Knight, SJL Tyson, J MacDermot, KD Flint, J Malcolm, S Winter, RM
Citation: Bba. De Vries et al., A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome, CLIN GENET, 58(6), 2000, pp. 483-487
An optimized set of human telomere clones for studying telomere integrity and architecture
Authors: Knight, SJL Lese, CM Precht, KS Kuc, J Ning, Y Lucas, S Regan, R Brenan, M Nicod, A Lawrie, NM Cardy, DLN Nguyen, H Hudson, TJ Riethman, HC Ledbetter, DH Flint, J
Citation: Sjl. Knight et al., An optimized set of human telomere clones for studying telomere integrity and architecture, AM J HU GEN, 67(2), 2000, pp. 320-332
A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation
Authors: Brackley, KJ Kilby, MD Morton, J Whittle, MJ Knight, SJL Flint, J
Citation: Kj. Brackley et al., A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation, PRENAT DIAG, 19(6), 1999, pp. 570-574
Subtle chromosomal rearrangements in children with unexplained mental retardation
Authors: Knight, SJL Regan, R Nicod, A Horsley, SW Kearney, L Homfray, T Winter, RM Bolton, P Flint, J
Citation: Sjl. Knight et al., Subtle chromosomal rearrangements in children with unexplained mental retardation, LANCET, 354(9191), 1999, pp. 1676-1681
Risultati: 1-9 |