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Susan M Ciocci

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Syndrome-causing mutations of the BLM gene in persons in the Bloom's syndrome registry

Journal Article

German, J.; Sanz, M. M.; Ciocci, S.; Ye, T. Z.; Ellis, N. A.
Human Mutation (2007)

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Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

Journal Article

Ellis, N. A.; Ciocci, S.; German, J.
Human Genetics (2001)

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Denaturing high performance liquid chromatogrpahy (DHPLC) used in the detection of mutation in hMLH1 and hMSH2 genes

Meeting Abstract

Pawar, S.; Ciocci, S.; Markowitz, A.; Jhanwar, S.; Ellis, N.
American Journal of Human Genetics (2000)

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The Ashkenazic Jewish bloom syndrome mutation blm(Ash) is present in non-Jewish Americans of Spanish ancestry

Journal Article

Ellis, N. A.; Ciocci, S.; Proytcheva, M.; Lennon, D.; Groden, J.; German, J.
American Journal of Human Genetics (1998)

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The Bloom's syndrome gene product is a DNA helicase and partially complements the phenotype of a S. cerevisiae sgs1 top3 strain

Meeting Abstract

Neff, N. F.; Ye, T.; Proytcheva, M.; Sanz, M.; Ciocci, S.; German, J. L.; Ellis, N. A.
American Journal of Human Genetics (1997)

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