检索结果 - Suthers, G

Estimation of an approximate confidence interval for FRAXA location by using linkage data from many pedigrees. 由 Suthers, G

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Skewed sex ratios in familial holoprosencephaly and in people with isolated single maxillary central incisor 由 Suthers, G., Smith, S., Springbett, S.

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Genetic counseling in rare syndromes: a resampling method for determining an approximate confidence interval for gene location with linkage data from a single pedigree. 由 Suthers, G K, Wilson, S R

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Phenotypic heterogeneity and the single gene. 由 Suthers, G K, Davies, K E

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A BclI RFLP for DXS296 (VK21) near the fragile X 由 Yu, S., Suthers, G.K., Mulley, J.C.

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Instability versus predictability: the molecular diagnosis of myotonic dystrophy. 由 Suthers, G K, Huson, S M, Davies, K E

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Arteriovenous malformations in Cowden syndrome 由 Turnbull, M, Humeniuk, V, Stein, B, Suthers, G

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Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder 由 Suthers, G K, Armstrong, J, McCormack, J, Trott, D

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TaqI RFLP identified by probe 1A1 [DXS374] at Xq28. 由 Suthers, G K, Davies, K E, Baker, E, Sutherland, G R

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Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree. 由 Suthers, G K, Manson, J I, Stern, L M, Haan, E A, Mulley, J C

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X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. 由 Gibbons, R J, Suthers, G K, Wilkie, A O, Buckle, V J, Higgs, D R

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Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype 由 Vervoort, V, Viljoen, D, Smart, R, Suthers, G, DuPont, B, Abbott, A, Schwartz, C

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Attitudes to genetic testing for breast cancer susceptibility in women at increased risk of developing hereditary breast cancer 由 MEISER, B., BUTOW, P., BARRATT, A., SUTHERS, G., SMITH, M., COLLEY, A., THOMPSON, E., TUCKER, K.

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TaqI RFLP identified by probe VK17A (DXS294) at Xq26. 由 Suthers, G K, Hyland, V J, Baker, E, Fernandez, K E, Callen, D F, Sutherland, G R

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Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. 由 Wicking, C, Shanley, S, Smyth, I, Gillies, S, Negus, K, Graham, S, Suthers, G, Haites, N, Edwards, M, Wainwright, B, Chenevix-Trench, G

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High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5. 由 Morrison, K E, Daniels, R J, Suthers, G K, Flynn, G A, Francis, M J, Buckle, V J, Davies, K E

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Tailoring communication in consultations with women from high risk breast cancer families 由 Lobb, E A, Butow, P N, Meiser, B, Barratt, A, Gaff, C, Young, M A, Kirk, J, Suthers, G K, Tucker, K

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Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes 由 Lobb, E A, Butow, P N, Barratt, A, Meiser, B, Gaff, C, Young, M A, Haan, E, Suthers, G, Gattas, M, Tucker, K

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Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA) 由 Rousseau, F., Vincent, A., Rivella, S., Heitz, D., Triboli, C., Maestrini, E., Warren, S. T., Suthers, G. K., Goodfellow, P., Mandel, J. L., Toniolo, D., Oberle, I.

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The challenges of finding the gene responsible for a rare, autosomal dominant gastric cancer susceptibility syndrome 由 Li, JJ, Healey, S, Phillips, K, Makunin, I, Wayte, N, Schrader, I, Worthley, D, Lindor, N, Huntsman, D, Goldgar, D, Suthers, G, Chenevix-Trench, G

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