Torthaí cuardaigh - Cassandra Obie

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  1. 1
    The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

    The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency de réir Matthias R. Baumgartner, Shlomo Almashanu, Terttu Suormala, Cassandra Obie, Robert N. Cole, Seymour Packman, E. R. Baumgartner, David Valle

    Foilsithe / Cruthaithe 2001
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  2. 2
    Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

    Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. de réir Grant A. Mitchell, Damian Labuda, G Fontaine, Jean Marie Saudubray, Jean‐Paul Bonnefont, Stanislas Lyonnet, Lawrence C. Brody, Gary Steel, Cassandra Obie, David Valle

    Foilsithe / Cruthaithe 1991
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  3. 3
    Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli

    Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli de réir Michael Schrader, Bernadette E. Reuber, James C. Morrell, Gerardo Jiménez‐Sánchez, Cassandra Obie, Tina A. Stroh, David Valle, Trina A. Schroer, Stephen J. Gould

    Foilsithe / Cruthaithe 1998
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  4. 4
    Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

    Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. de réir Larry Brody, Grant A. Mitchell, Cassandra Obie, Jacques L. Michaud, Gary Steel, G Fontaine, M.F. Robert, Ilkka Sipilä, Muriel I. Kaiser‐Kupfer, David Valle

    Foilsithe / Cruthaithe 1992
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  5. 5
    At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

    At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns. de réir Grant A. Mitchell, Lawrence C. Brody, Ilkka Sipilä, James E. Looney, C Wong, John F. Engelhardt, Achyut S. Patel, Gary Steel, Cassandra Obie, Muriel I. Kaiser‐Kupfer

    Foilsithe / Cruthaithe 1989
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  6. 6
    Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

    Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype de réir Nancy Braverman, Li Chen, Paul Lin, Cassandra Obie, Gary Steel, Pamela K. Douglas, Pranesh Chakraborty, Joe T.R. Clarke, Avihu Boneh, Ann B. Moser, Hugo W. Moser, David Valle

    Foilsithe / Cruthaithe 2002
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  7. 7
    Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

    Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome de réir Nancy Braverman, Paul Lin, Fabian F. Moebius, Cassandra Obie, Ann B. Moser, Hartmut Glossmann, William R. Wilcox, David L. Rimoin, Moyra Smith, Lisa E. Kratz, Richard I. Kelley, David Valle

    Foilsithe / Cruthaithe 1999
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