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Journal of Inherited Metabolic Disease
|
October 27, 2004
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency
C Mühlhausen, G F Hoffmann, K A Strauss, et al.
American Journal of Medical Genetics
|
February 15, 1992
Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk
M Huggins, M Bloch, S Wiggins, et al.
Genomics
|
November 1, 1987
Infantile hypophosphatasia--linkage with the RH locus
B N Chodirker, J A Evans, M Lewis, et al.
American Journal of Medical Genetics
|
September 15, 1991
Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity
M Trifiro, R L Prior, N Sabbaghian, et al.
American Journal of Human Genetics
|
July 1, 1992
Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I
A Wiens, S Marles, J Safneck, et al.
Neurology
|
January 3, 2001
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy
S N Illarioshkin, I A Ivanova-Smolenskaya, C R Greenberg, et al.
American Journal of Human Genetics
|
July 1, 1994
Molecular characterization of the marker chromosome associated with cat eye syndrome
A J Mears, A M Duncan, M L Budarf, et al.
Clinical Genetics
|
January 8, 2003
Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features
A J Dawson, S Putnam, J Schultz, et al.
The Journal of Pediatrics
|
July 1, 1989
Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship
F A Booth, J C Haworth, L A Dilling, et al.
Pediatric Research
|
January 7, 2000
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy
A M Innes, L E Seargeant, K Balachandra, et al.
Page
of 11
Search research articles
Search
Showing results (71-80 of 105) with videos related to
Sort By:
Page
of 11
Journal of Inherited Metabolic Disease
|
October 27, 2004
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency
C Mühlhausen, G F Hoffmann, K A Strauss, et al.
American Journal of Medical Genetics
|
February 15, 1992
Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk
M Huggins, M Bloch, S Wiggins, et al.
Genomics
|
November 1, 1987
Infantile hypophosphatasia--linkage with the RH locus
B N Chodirker, J A Evans, M Lewis, et al.
American Journal of Medical Genetics
|
September 15, 1991
Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity
M Trifiro, R L Prior, N Sabbaghian, et al.
American Journal of Human Genetics
|
July 1, 1992
Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I
A Wiens, S Marles, J Safneck, et al.
Neurology
|
January 3, 2001
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy
S N Illarioshkin, I A Ivanova-Smolenskaya, C R Greenberg, et al.
American Journal of Human Genetics
|
July 1, 1994
Molecular characterization of the marker chromosome associated with cat eye syndrome
A J Mears, A M Duncan, M L Budarf, et al.
Clinical Genetics
|
January 8, 2003
Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features
A J Dawson, S Putnam, J Schultz, et al.
The Journal of Pediatrics
|
July 1, 1989
Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship
F A Booth, J C Haworth, L A Dilling, et al.
Pediatric Research
|
January 7, 2000
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy
A M Innes, L E Seargeant, K Balachandra, et al.
Page
of 11