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G T Besley

Showing results (51-60 of 69) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1994
Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activityG T Besley, J H Walter, M A Lewis, et al.
Journal of Medical Genetics|June 14, 2000
Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlationC A Sargent, A Kidd, S Moore, et al.
Journal of Inherited Metabolic Disease|February 24, 2001
Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutationA Chakrapani, S Olpin, M Cleary, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyosesB D Lake, V V Smith, M R Judge, et al.
Journal of Lipid Research|January 11, 2000
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage diseaseP Lohse, S Maas, P Lohse, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
Prenatal diagnosis of Canavan disease--problems and dilemmasG T Besley, O N Elpeleg, A Shaag, et al.
Clinical Genetics|November 1, 1986
Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivationD M Broadhead, J M Kirk, A J Burt, et al.
Prenatal Diagnosis|October 1, 1988
First-trimester prenatal diagnosis of cystic fibrosis using fibroblasts from a deceased index child to establish haplotypesA Curtis, L Strain, M Mennie, et al.
Leukemia Research|January 1, 1981
Recognition of abnormal lysosomal enzyme patterns in childhood leukaemia by isoelectric focusing, with special reference to some properties of abnormally expressed componentsD M Broadhead, G T Besley, S E Moss, et al.
South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde|July 22, 1978
Krabbe's disease in an infant and her fetal sibling. A case reportE M Petersen, M M Nelson, A J Thomson, et al.
Pageof 7

Showing results (51-60 of 69) with videos related to

Sort By:
Pageof 7
Journal of Inherited Metabolic Disease|January 1, 1994
Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activityG T Besley, J H Walter, M A Lewis, et al.
Journal of Medical Genetics|June 14, 2000
Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlationC A Sargent, A Kidd, S Moore, et al.
Journal of Inherited Metabolic Disease|February 24, 2001
Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutationA Chakrapani, S Olpin, M Cleary, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyosesB D Lake, V V Smith, M R Judge, et al.
Journal of Lipid Research|January 11, 2000
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage diseaseP Lohse, S Maas, P Lohse, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
Prenatal diagnosis of Canavan disease--problems and dilemmasG T Besley, O N Elpeleg, A Shaag, et al.
Clinical Genetics|November 1, 1986
Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivationD M Broadhead, J M Kirk, A J Burt, et al.
Prenatal Diagnosis|October 1, 1988
First-trimester prenatal diagnosis of cystic fibrosis using fibroblasts from a deceased index child to establish haplotypesA Curtis, L Strain, M Mennie, et al.
Leukemia Research|January 1, 1981
Recognition of abnormal lysosomal enzyme patterns in childhood leukaemia by isoelectric focusing, with special reference to some properties of abnormally expressed componentsD M Broadhead, G T Besley, S E Moss, et al.
South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde|July 22, 1978
Krabbe's disease in an infant and her fetal sibling. A case reportE M Petersen, M M Nelson, A J Thomson, et al.
Pageof 7