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Results: 1-7 |
Results: 7
A new case of Myhre syndrome
Authors: Whiteford, ML Doig, WB Raine, PAM Hollman, AS Tolmie, JL
Citation: Ml. Whiteford et al., A new case of Myhre syndrome, CLIN DYSMOR, 10(2), 2001, pp. 135-140
Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus
Authors: Tobias, ES Bryce, G Farmer, G Barton, J Colgan, J Morrison, N Cooke, A Tolmie, JL
Citation: Es. Tobias et al., Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus, J MED GENET, 38(7), 2001, pp. 466-469
A novel acropectoral syndrome maps to chromosome 7q36
Authors: Dundar, M Gordon, TM Ozyazgan, I Oguzkaya, F Ozkul, Y Cooke, A Wilkinson, AG Holloway, S Goodman, FR Tolmie, JL
Citation: M. Dundar et al., A novel acropectoral syndrome maps to chromosome 7q36, J MED GENET, 38(5), 2001, pp. 304-309
Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21
Authors: Crow, YJ Jackson, AP Roberts, E van Beusekom, E Barth, P Corry, P Ferrie, CD Hamel, BCJ Jayatunga, R Karbani, G Kalmanchey, R Kelemen, A King, M Kumar, R Livingstone, J Massey, R McWilliam, R Meager, A Rittey, C Stephenson, JBP Tolmie, JL Verrips, A Voit, T van Bokhoven, H Brunner, HG Woods, CG
Citation: Yj. Crow et al., Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21, AM J HU GEN, 67(1), 2000, pp. 213-221
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
Authors: Marsh, DJ Kum, JB Lunetta, KL Bennett, MJ Gorlin, RJ Ahmed, SF Bodurtha, J Crowe, C Curtis, MA Dasouki, M Dunn, T Feit, H Geraghty, MT Graham, JM Hodgson, SV Hunter, A Korf, BR Manchester, D Miesfeldt, S Murday, VA Nathanson, KL Parisi, M Pober, B Romano, C Tolmie, JL Trembath, R Winter, RM Zackai, EH Zori, RT Weng, LP Dahia, PLM Eng, C
Citation: Dj. Marsh et al., PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome, HUM MOL GEN, 8(8), 1999, pp. 1461-1472
Towards earlier diagnosis of 22q11 deletions
Authors: Tobias, ES Morrison, N Whiteford, ML Tolmie, JL
Citation: Es. Tobias et al., Towards earlier diagnosis of 22q11 deletions, ARCH DIS CH, 81(6), 1999, pp. 513-514
The molecular basis of malonyl-CoA decarboxylase deficiency
Authors: FitzPatrick, DR Hill, A Tolmie, JL Thorburn, DR Christodoulou, L
Citation: Dr. Fitzpatrick et al., The molecular basis of malonyl-CoA decarboxylase deficiency, AM J HU GEN, 65(2), 1999, pp. 318-326
Risultati: 1-7 |