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American Journal of Human Genetics
|
January 1, 1989
Selection against lethal alleles in females heterozygous for incontinentia pigmenti
B 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 Quebec
L R Simard, J Viel, M Lambert, et al.
Prenatal Diagnosis
|
August 1, 1995
Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency
G 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 evolution
Y 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 ester
G 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 deficiency
G T Berry, T Fukao, G A Mitchell, et al.
Neuropediatrics
|
May 28, 2008
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia
F-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 mice
S 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 isodisomy
I 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 siblings
X Q Song, T Fukao, H Watanabe, et al.
Page
of 11
Search research articles
Search
Showing results (71-80 of 110) with videos related to
Sort By:
Page
of 11
American Journal of Human Genetics
|
January 1, 1989
Selection against lethal alleles in females heterozygous for incontinentia pigmenti
B 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 Quebec
L R Simard, J Viel, M Lambert, et al.
Prenatal Diagnosis
|
August 1, 1995
Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency
G 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 evolution
Y 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 ester
G 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 deficiency
G T Berry, T Fukao, G A Mitchell, et al.
Neuropediatrics
|
May 28, 2008
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia
F-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 mice
S 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 isodisomy
I 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 siblings
X Q Song, T Fukao, H Watanabe, et al.
Page
of 11