F Bowling

Summary

Affiliation: South Brisbane
Country: Australia

Publications

  1. ncbi request reprint Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency
    F Bowling
    School of Biomolecular and Biomedical Science, Griffith University, Nathan, Australia
    Am J Med Genet 85:452-4. 1999
  2. ncbi request reprint Carbohydrate-deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocation
    F G Bowling
    Mater Mother s Hospital, South Brisbane Q4101, Australia
    Eur J Pediatr 158:794-5. 1999

Collaborators

Detail Information

Publications2

  1. ncbi request reprint Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency
    F Bowling
    School of Biomolecular and Biomedical Science, Griffith University, Nathan, Australia
    Am J Med Genet 85:452-4. 1999
    ..Gonadal mosaicism needs to be considered when counseling couples in which the mother has had a previously affected child with OTC deficiency but apparently is not a carrier...
  2. ncbi request reprint Carbohydrate-deficient glycoprotein syndrome in a newborn with an unbalanced chromosomal translocation
    F G Bowling
    Mater Mother s Hospital, South Brisbane Q4101, Australia
    Eur J Pediatr 158:794-5. 1999
    ..1;q22.11)mat.ish der(21)t(17;21) (D17S375 x 3, D21S65-)] and with biochemical and clinical features of a carbohydrate deficient glycoprotein syndrome is reported. This chromosomal disruption is another secondary cause of the disorder...