Search Results - "Juyn, J"

  • Showing 1 - 9 results of 9
Refine Results
  1. 1
    Very high frequency of the His1069Gln mutation in Polish Wilson disease patients

    Very high frequency of the His1069Gln mutation in Polish Wilson disease patients by Czlonkowska, A, Rodo, M, Gajda, J, Ploos van Amstel, H K, Juyn, J, Houwen, R H

    Published in Journal of neurology (01-09-1997)
    Get full text
    Journal Article
    Save to List
    Saved in:
  2. 2
    H714Q mutation in Wilson disease is associated with late, neurological presentation

    H714Q mutation in Wilson disease is associated with late, neurological presentation by Houwen, R H, Juyn, J, Hoogenraad, T U, Ploos van Amstel, J K, Berger, R

    Published in Journal of medical genetics (01-06-1995)
    “…Wilson disease is an autosomal recessive copper storage disease resulting from an inability of the liver to excrete copper. Patients can present at a young…”
    Get full text
    Journal Article
    Save to List
    Saved in:
  3. 3
    22 MAPPING OF THE GENE FOR BRIC AND BYLER DISEASE

    22 MAPPING OF THE GENE FOR BRIC AND BYLER DISEASE by Houwen, R. H.J., Sinke, R., Juyn, J., Freimer, N., Berger, R.

    Get full text
    Journal Article
    Save to List
    Saved in:
  4. 4
    Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis

    Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis by van der Sijs-Bos, C J, Diepstraten, C M, Juyn, J A, Plaisier, M, Giltay, J C, van Spronsen, F J, Smit, G P, Berger, R, Smeitink, J A, Poll-The, B T, Ploos van Amstel, J K

    Published in Human heredity (01-07-1996)
    “…Single-strand conformational analysis was used to screen for genetic defects in all thirteen exons of the phenylalanine hydroxylase gene (PAH) in…”
    Get more information
    Journal Article
    Save to List
    Saved in:
  5. 5
    22 GENOTYPE‐FENOTYPE RELATIONS IN WILSON DISEASE

    22 GENOTYPE‐FENOTYPE RELATIONS IN WILSON DISEASE by Houwen, R. H.J., Juyn, J., Ploos‐van Amstel, H. C., Berger, R.

    Get full text
    Journal Article
    Save to List
    Saved in:
  6. 6
    Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

    Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis by Baharloo, Siamak, Blankenship, Kathleen, Juyn, Jenneke, Raeymaekers, Peter, Houwen, Roderick H. J, Freimer, Nelson B, Sandkuijl, Lodewijk A

    Published in Nature genetics (01-12-1994)
    “…It is now feasible to map disease genes by screening the genome for linkage disequilibrium between the disease and marker alleles. This report presents the…”
    Get full text
    Journal Article
    Save to List
    Saved in:
  7. 7
    Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2

    Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2 by Bijlsma, E K, Delattre, O, Juyn, J A, Melot, T, Westerveld, A, Dumanski, J P, Thomas, G, Hulsebos, T J

    Published in Genes chromosomes & cancer (01-10-1993)
    “…Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disease, characterized by the development of bilateral vestibular schwannomas. The NF2 gene has…”
    Get more information
    Journal Article
    Save to List
    Saved in:
  8. 8
    22 MAPPING OF THE GENE FOR BRIC AND BYLER DISEASE

    22 MAPPING OF THE GENE FOR BRIC AND BYLER DISEASE by Houwen, R. H.J., Sinke, R., Juyn, J., Freimer, N., Berger, R.

    Get full text
    Journal Article
    Save to List
    Saved in:
  9. 9
    22 GENOTYPE-FENOTYPE RELATIONS IN WILSON DISEASE

    22 GENOTYPE-FENOTYPE RELATIONS IN WILSON DISEASE by Houwen, R. H.J., Juyn, J., Ploos-van Amstel, H. C., Berger, R.

    Get full text
    Journal Article
    Save to List
    Saved in:

Search Tools: