Macquarie University, Sydney Macquarie University ResearchOnline

Showing items 1 - 7 of 7.

Add to Quick Collection   All 7 Results

  • First
  • Previous
  • 1
  • Next
  • Last
Sort:
 Add All Items to Quick Collection
Date: 2000
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186589
Description: We report a new family with oculodigitoesophagoduodenal syndrome (ODED syndrome), which associates microcephaly, abnormalities of the hands and feet, shortened palpebral fissures, tracheoesophageal fi ... More
Reviewed: Reviewed
Date: 1999
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186651
Description: The Nager syndrome is the most common form of acrofacial dysostosis. Although autosomal dominant and recessive forms of acrofacial dysostosis have been described the molecular etiology of these disord ... More
Reviewed: Reviewed
Date: 1999
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186661
Description: We report on 3 patients with partial deletions of the long arm of chromosome 10 - 46, XY, del (10)(q26.2), 46, XX, del (10)(q25.3q26.3) or 46, XX, del (10)(q26.1), and 46, XX, del (10)(q26.1). They ar ... More
Reviewed: Reviewed
Date: 1998
Subject Keyword: Cobalamin | Development | Propionate
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186664
Description: Methylmalonic acidemia can be secondary to a deficiency of methylmalonyl CoA mutase or to a defect of cobalamin metabolism that is classified by complementation group. We report on a new patient with ... More
Reviewed: Reviewed
Date: 1998
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186660
Description: Chondrodysplasia punctata (CDP) is associated with a variety of genetic and nongenetic conditions. We report a girl with CDP, complex congenital cardiac disease, central nervous system (CNS) anomalies ... More
Reviewed: Reviewed
Date: 1991
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186981
Description: The fetal and maternal concentration of various plasma proteins alters during pregnancy. Cells in the livers of fetal hamsters accumulate serum amyloid A (SAA) and C-reactive protein (CRP) mRNA, major ... More
Reviewed: Reviewed
Date: 1989
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186965
Description: Complementary DNA clones for Armenian hamster female protein (FP) were isolated and the complete nucleotide sequence and derived amino acid sequence were determined and compared with relevant data for ... More
Reviewed: Reviewed
  • First
  • Previous
  • 1
  • Next
  • Last