Search Results - Tønnesen, Tønne

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  1. 1
    Identification of point mutations in 41 unrelated patients affected with Menkes disease

    Identification of point mutations in 41 unrelated patients affected with Menkes disease by TÜMER, Z, LUND, C, TOLSHAVE, J, VURAL, B, TØNNESEN, T, HORN, N

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  2. 2
    Characterization of the exon structure of the Menkes disease gene using vectorette PCR

    Characterization of the exon structure of the Menkes disease gene using vectorette PCR by Tümer, Z., Vural, B., Tønnesen, T., Chelly, J., Monaco, A.P., Horn, N.

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  3. 3
    Characterization of a 1.0 Mb YAC contig spannning two chromosome breakpoints related to Menkes disease

    Characterization of a 1.0 Mb YAC contig spannning two chromosome breakpoints related to Menkes disease by Tümer, Zeynep, Chelly, Jamel, Tommerup, Niels, Ishikawa-Brush, Yumiko, Tønnesen, Tønne, Monaco, Anthony P., Horn, Nina

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  4. 4
    Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy

    Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy by GIESELMAN, V, FLUHARTY, A. L, TØNNESEN, T, VON FIGURA, K

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  5. 5
    First trimester prenatal diagnosis of Menkes disease by DNA analysis

    First trimester prenatal diagnosis of Menkes disease by DNA analysis by Tümer, Z, Tønnesen, T, Böhmann, J, Marg, W, Horn, N

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  6. 6
    Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency

    Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency by KAPPLER, J, LEINEKUGEL, P, CONZELMANN, E, KLEIJER, W. J, KOHLSCHÜTTER, A, TØNNESEN, T, ROCHEL, M, FREYCON, F, PROPPING, P

    Published in Human genetics
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  7. 7
    Comparison of trace element distributions in occipital horn syndrome and menkes disease with normal subjects by neutron activation analysis

    Comparison of trace element distributions in occipital horn syndrome and menkes disease with normal subjects by neutron activation analysis by Heydorn, Kaj, Damsgaard, Else, Horn, Nina, Tønnesen, Tønne, Mussalo‐Rauhamaa, Helena, Kaitila, Ilkka

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  8. 8
    Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence or fructose 1-phosphate

    Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence or fructose 1-phosphate by Tønnesen, T, Lykkelund, C, Güttler, F

    Published in Human genetics
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  9. 9
    Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

    Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome by Bondeson, Maire-Louise, Dahl, Niklas, Malmgren, Helena, Kleijer, Wim J., Tönnesen, Tönne, Carlberg, Britt-Marie, Pettersson, Ulf

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  10. 10
    Double-Strand Breaks May Initiate the Inversion Mutation Causing the Hunter Syndrome

    Double-Strand Breaks May Initiate the Inversion Mutation Causing the Hunter Syndrome by Lagerstedt, Kristina, Karsten, Stanislav L., Carlberg, Britt-Marie, Kleijer, Wim J., Tönnesen, Tönne, Pettersson, Ulf, Bondeson, Marie-Louise

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