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Results:
1-14
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Results: 14
Authors:
Sharp, A
Robinson, DO
Jacobs, P
Citation: A. Sharp et al., Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation, HUM GENET, 109(3), 2001, pp. 295-302
Authors:
Varrault, A
Bilanges, B
Mackay, DJG
Basyuk, E
Ahr, B
Fernandez, C
Robinson, DO
Bockaert, J
Journot, L
Citation: A. Varrault et al., Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus, J BIOL CHEM, 276(22), 2001, pp. 18653-18656
Authors:
Shield, J
Owen, K
Robinson, DO
Mackay, D
Ellard, S
Hattersley, A
Temple, IK
Citation: J. Shield et al., Maturity onset diabetes of the young (MOBY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus, DIABETOLOG, 44(7), 2001, pp. 924-924
Authors:
Hill, ME
Creed, GA
McMullan, TFW
Tyers, AG
Hilton-Jones, D
Robinson, DO
Hammans, SR
Citation: Me. Hill et al., Oculopharyngeal muscular dystrophy - Phenotypic and genotypic studies in aUK population, BRAIN, 124, 2001, pp. 522-526
Authors:
Gardner, RJ
Mackay, DJG
Mungall, AJ
Polychronakos, C
Siebert, R
Shield, JPH
Temple, IK
Robinson, DO
Citation: Rj. Gardner et al., An imprinted locus associated with transient neonatal diabetes mellitus, HUM MOL GEN, 9(4), 2000, pp. 589-596
Authors:
Hammans, SR
Robinson, DO
Moutou, C
Kennedy, CR
Dennis, NR
Hughes, PJ
Ellison, DW
Citation: Sr. Hammans et al., A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy, NEUROMUSC D, 10(2), 2000, pp. 133-137
Authors:
Rivera, H
Correa-Cerro, LS
Robinson, DO
Crolla, JA
Citation: H. Rivera et al., Functional Xp disomy and hypomelanosis of Ito, ARCH MED R, 31(1), 2000, pp. 88-92
Authors:
Temple, IK
Gardner, RJ
Mackay, DJG
Barber, JCK
Robinson, DO
Shield, JPH
Citation: Ik. Temple et al., Transient neonatal diabetes - Widening the understanding of the etiopathogenesis of diabetes, DIABETES, 49(8), 2000, pp. 1359-1366
Authors:
McMullan, TFW
Collins, AR
Tyers, AG
Robinson, DO
Citation: Tfw. Mcmullan et al., A novel X-linked dominant condition: X-linked congenital isolated ptosis, AM J HU GEN, 66(4), 2000, pp. 1455-1460
Authors:
Robinson, DO
Jacobs, PA
Citation: Do. Robinson et Pa. Jacobs, The origin of the extra Y chromosome in males with a 47,XYY karyotype, HUM MOL GEN, 8(12), 1999, pp. 2205-2209
Authors:
Hackwell, SM
Robinson, DO
Harvey, JF
Ross, FM
Citation: Sm. Hackwell et al., Identification of false-positive CBF beta/MYH11 RT-PCR results, LEUKEMIA, 13(10), 1999, pp. 1617-1619
Authors:
Robinson, DO
Dalton, P
Jacobs, PA
Mosse, K
Power, MM
Skuse, DH
Crolla, JA
Citation: Do. Robinson et al., A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome, J MED GENET, 36(4), 1999, pp. 279-284
Authors:
Gardner, RJ
Mungall, AJ
Dunham, I
Barber, JCK
Shield, JPH
Temple, IK
Robinson, DO
Citation: Rj. Gardner et al., Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR(3000) (similar to 5.4 Mb) interval on chromosome 6q, J MED GENET, 36(3), 1999, pp. 192-196
Authors:
Gardner, RJ
Robinson, DO
Lamont, L
Shield, JPH
Temple, IK
Citation: Rj. Gardner et al., Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus, CLIN GENET, 54(6), 1998, pp. 522-525
Risultati:
1-14
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