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G A Mitchell

Showing results (71-80 of 110) with videos related to

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American Journal of Human Genetics|January 1, 1989
Selection against lethal alleles in females heterozygous for incontinentia pigmentiB R Migeon, J Axelman, S Jan de Beur, et al.
Clinical Genetics|February 6, 2004
The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in QuebecL R Simard, J Viel, M Lambert, et al.
Prenatal Diagnosis|August 1, 1995
Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiencyG A Mitchell, C Jakobs, K M Gibson, et al.
Genomics|October 1, 1994
Human mitochondrial HMG CoA synthase: liver cDNA and partial genomic cloning, chromosome mapping to 1p12-p13, and possible role in vertebrate evolutionY Boukaftane, A Duncan, S Wang, et al.
Thrombosis Research|July 1, 1978
Assay for plasma heparin using a synthetic peptide substrate for thrombin: introduction of the fluorophore aminoisophthalic acid, dimethyl esterG A Mitchell, R J Garguilo, R M Huseby, et al.
Journal of Inherited Metabolic Disease|January 5, 2002
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiencyG T Berry, T Fukao, G A Mitchell, et al.
Neuropediatrics|May 28, 2008
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxiaF-G Debray, M Lambert, R Gagne, et al.
Human Molecular Genetics|November 18, 1998
3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient miceS P Wang, J D Marth, L L Oligny, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
<i>LPIN1</i> deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomyI A Meijer, F Sasarman, C Maftei, et al.
Human Mutation|July 22, 1998
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblingsX Q Song, T Fukao, H Watanabe, et al.
Pageof 11

Showing results (71-80 of 110) with videos related to

Sort By:
Pageof 11
American Journal of Human Genetics|January 1, 1989
Selection against lethal alleles in females heterozygous for incontinentia pigmentiB R Migeon, J Axelman, S Jan de Beur, et al.
Clinical Genetics|February 6, 2004
The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in QuebecL R Simard, J Viel, M Lambert, et al.
Prenatal Diagnosis|August 1, 1995
Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiencyG A Mitchell, C Jakobs, K M Gibson, et al.
Genomics|October 1, 1994
Human mitochondrial HMG CoA synthase: liver cDNA and partial genomic cloning, chromosome mapping to 1p12-p13, and possible role in vertebrate evolutionY Boukaftane, A Duncan, S Wang, et al.
Thrombosis Research|July 1, 1978
Assay for plasma heparin using a synthetic peptide substrate for thrombin: introduction of the fluorophore aminoisophthalic acid, dimethyl esterG A Mitchell, R J Garguilo, R M Huseby, et al.
Journal of Inherited Metabolic Disease|January 5, 2002
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiencyG T Berry, T Fukao, G A Mitchell, et al.
Neuropediatrics|May 28, 2008
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxiaF-G Debray, M Lambert, R Gagne, et al.
Human Molecular Genetics|November 18, 1998
3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient miceS P Wang, J D Marth, L L Oligny, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
<i>LPIN1</i> deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomyI A Meijer, F Sasarman, C Maftei, et al.
Human Mutation|July 22, 1998
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblingsX Q Song, T Fukao, H Watanabe, et al.
Pageof 11