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Results: 1-5 |
Results: 5

Authors: Amir, RE Van den Veyver, IB Schultz, R Malicki, DM Tran, CQ Dahle, EJ Philippi, A Timar, L Percy, AK Motil, KJ Lichtarge, O Smith, EO Glaze, DG Zoghbi, HY
Citation: Re. Amir et al., Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes, ANN NEUROL, 47(5), 2000, pp. 670-679

Authors: Amir, RE Zoghbi, HY
Citation: Re. Amir et Hy. Zoghbi, Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations, AM J MED G, 97(2), 2000, pp. 147-152

Authors: Buyse, IM Fang, P Hoon, KT Amir, RE Zoghbi, HY Roa, BB
Citation: Im. Buyse et al., Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms, AM J HU GEN, 67(6), 2000, pp. 1428-1436

Authors: Amir, RE Van den Veyver, IB Wan, M Tran, CQ Francke, U Zoghbi, HY
Citation: Re. Amir et al., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2, NAT GENET, 23(2), 1999, pp. 185-188

Authors: Wan, MM Lee, SSJ Zhang, XY Houwink-Manville, I Song, HR Amir, RE Budden, S Naidu, S Pereira, JLP Lo, IFM Zoghbi, HY Schanen, NC Francke, U
Citation: Mm. Wan et al., Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots, AM J HU GEN, 65(6), 1999, pp. 1520-1529
Risultati: 1-5 |