Search research articles
Contact Us
Filters
Showing results (31-40 of 105) with videos related to
Page
of 11
Sort By:
American Journal of Human Genetics
|
September 1, 1986
Subregional assignment of the linked marker G8 (D4S10) for Huntington disease to chromosome 4p16.1-16.3
H S Wang, C R Greenberg, J Hewitt, et al.
Journal of Inherited Metabolic Disease
|
September 3, 1999
A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation
L E Seargeant, K Balachandra, C Mallory, et al.
British Journal of Haematology
|
November 1, 1990
A variant congenital dyserythropoietic anaemia presenting as a fatal hydrops foetalis
G Williams, S Lorimer, C C Merry, et al.
Genomics
|
May 1, 1994
Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis
C R Greenberg, A M Duncan, C A Gregory, et al.
American Journal of Medical Genetics
|
June 22, 1999
Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop
M L Huie, J S Kasper, P H Arn, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Neonatal screening for glutaryl-CoA dehydrogenase deficiency
M Lindner, S Kölker, A Schulze, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Emergency treatment in glutaryl-CoA dehydrogenase deficiency
S Kölker, C R Greenberg, M Lindner, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia
B N Chodirker, S P Coburn, L E Seargeant, et al.
American Journal of Medical Genetics
|
April 1, 1990
Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR
C A Gregory, A J Kirkilionis, C R Greenberg, et al.
American Journal of Human Genetics
|
February 1, 1990
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening
B N Chodirker, J A Evans, L E Seargeant, et al.
Page
of 11
Search research articles
Search
Showing results (31-40 of 105) with videos related to
Sort By:
Page
of 11
American Journal of Human Genetics
|
September 1, 1986
Subregional assignment of the linked marker G8 (D4S10) for Huntington disease to chromosome 4p16.1-16.3
H S Wang, C R Greenberg, J Hewitt, et al.
Journal of Inherited Metabolic Disease
|
September 3, 1999
A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation
L E Seargeant, K Balachandra, C Mallory, et al.
British Journal of Haematology
|
November 1, 1990
A variant congenital dyserythropoietic anaemia presenting as a fatal hydrops foetalis
G Williams, S Lorimer, C C Merry, et al.
Genomics
|
May 1, 1994
Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis
C R Greenberg, A M Duncan, C A Gregory, et al.
American Journal of Medical Genetics
|
June 22, 1999
Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop
M L Huie, J S Kasper, P H Arn, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Neonatal screening for glutaryl-CoA dehydrogenase deficiency
M Lindner, S Kölker, A Schulze, et al.
Journal of Inherited Metabolic Disease
|
October 27, 2004
Emergency treatment in glutaryl-CoA dehydrogenase deficiency
S Kölker, C R Greenberg, M Lindner, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia
B N Chodirker, S P Coburn, L E Seargeant, et al.
American Journal of Medical Genetics
|
April 1, 1990
Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR
C A Gregory, A J Kirkilionis, C R Greenberg, et al.
American Journal of Human Genetics
|
February 1, 1990
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening
B N Chodirker, J A Evans, L E Seargeant, et al.
Page
of 11