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Results: 1-8 |
Results: 8
Methylation of HpaII site at the human DXS16 locus on Xp22 as an assay forabnormal patterns of X inactivation
Authors: Khalifa, MM Struthers, JL Maurice, S Harrison, K Duncan, AMV
Citation: Mm. Khalifa et al., Methylation of HpaII site at the human DXS16 locus on Xp22 as an assay forabnormal patterns of X inactivation, AM J MED G, 98(1), 2001, pp. 64-69
Reply to letter to the editor by Willatt - "Partial trisomy of 2p and neuroblastoma"
Authors: Al-Saffar, M Lemyre, ME Koenekoop, R Duncan, AMV Kaloustian, VMD
Citation: M. Al-saffar et al., Reply to letter to the editor by Willatt - "Partial trisomy of 2p and neuroblastoma", AM J MED G, 102(3), 2001, pp. 305-305
Stable non-Robertsonian dicentric chromosomes: four new cases and a review
Authors: Lemyre, E Der Kaloustian, VM Duncan, AMV
Citation: E. Lemyre et al., Stable non-Robertsonian dicentric chromosomes: four new cases and a review, J MED GENET, 38(1), 2001, pp. 76-79
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
Authors: Percin, EF Ploder, LA Yu, JJ Arici, K Horsford, DJ Rutherford, A Bapat, B Cox, DW Duncan, AMV Kalnins, VI Kocak-Altintas, A Sowden, JC Traboulsi, E Sarfarazi, M McInnes, RR
Citation: Ef. Percin et al., Human microphthalmia associated with mutations in the retinal homeobox gene CHX10, NAT GENET, 25(4), 2000, pp. 397-401
Cloning and characterization of human PREB; a gene that maps to a genomic region associated with trisomy 2p syndrome
Authors: Clelland, CLT Levy, B McKie, JM Duncan, AMV Hirschhorn, K Bancroft, C
Citation: Clt. Clelland et al., Cloning and characterization of human PREB; a gene that maps to a genomic region associated with trisomy 2p syndrome, MAMM GENOME, 11(8), 2000, pp. 675-681
Phenotype of a patient with pure partial trisomy 2p(p23 -> pter)
Authors: Al-Saffar, M Lemyre, E Koenekoop, R Duncan, AMV Der Kaloustian, VM
Citation: M. Al-saffar et al., Phenotype of a patient with pure partial trisomy 2p(p23 -> pter), AM J MED G, 94(5), 2000, pp. 428-432
Phenotypic manifestation in a child with 46,X,der(X)t(X;1) (q24;q31.1)
Authors: Collins, KA Eydoux, P Duncan, AMV Ortenberg, J Silver, K Kaloustian, VMD
Citation: Ka. Collins et al., Phenotypic manifestation in a child with 46,X,der(X)t(X;1) (q24;q31.1), AM J MED G, 91(5), 2000, pp. 345-347
PHR1 encodes an abundant, pleckstrin homology domain-containing integral membrane protein in the photoreceptor outer segments
Authors: Xu, SB Ladak, R Swanson, DA Soltyk, A Sun, H Ploder, L Vidgen, D Duncan, AMV Garami, E Valle, D McInnes, RR
Citation: Sb. Xu et al., PHR1 encodes an abundant, pleckstrin homology domain-containing integral membrane protein in the photoreceptor outer segments, J BIOL CHEM, 274(50), 1999, pp. 35676-35685
Risultati: 1-8 |