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The Journal of Pediatrics
|
November 1, 1992
Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients
J F Lemay, M A Lambert, G A Mitchell, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 1, 1991
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation
G A Mitchell, D Labuda, G Fontaine, et al.
The Journal of Biological Chemistry
|
February 15, 1992
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences
L C Brody, G A Mitchell, C Obie, et al.
Thrombosis Research
|
March 15, 1981
Fluorogenic substrate assays for factors VIII and IX: introduction of a new solid phase fluorescent detection method
G A Mitchell, C M Abdullahad, J A Ruiz, et al.
American Journal of Human Genetics
|
March 1, 1995
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V
J Michaud, G N Thompson, L C Brody, et al.
Annals of Neurology
|
March 11, 1999
Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency
C Morin, J Dubé, B H Robinson, et al.
Nature Genetics
|
June 16, 1999
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
J A Camacho, C Obie, B Biery, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 1, 1989
At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns
G A Mitchell, L C Brody, I Sipila, et al.
American Journal of Human Genetics
|
January 13, 2001
A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16
N Lee, M J Daly, T Delmonte, et al.
American Journal of Human Genetics
|
April 16, 1998
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q
G A Mitchell, P T Ozand, M F Robert, et al.
Page
of 11
Search research articles
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Showing results (91-100 of 110) with videos related to
Sort By:
Page
of 11
The Journal of Pediatrics
|
November 1, 1992
Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients
J F Lemay, M A Lambert, G A Mitchell, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 1, 1991
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation
G A Mitchell, D Labuda, G Fontaine, et al.
The Journal of Biological Chemistry
|
February 15, 1992
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences
L C Brody, G A Mitchell, C Obie, et al.
Thrombosis Research
|
March 15, 1981
Fluorogenic substrate assays for factors VIII and IX: introduction of a new solid phase fluorescent detection method
G A Mitchell, C M Abdullahad, J A Ruiz, et al.
American Journal of Human Genetics
|
March 1, 1995
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V
J Michaud, G N Thompson, L C Brody, et al.
Annals of Neurology
|
March 11, 1999
Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency
C Morin, J Dubé, B H Robinson, et al.
Nature Genetics
|
June 16, 1999
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
J A Camacho, C Obie, B Biery, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 1, 1989
At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns
G A Mitchell, L C Brody, I Sipila, et al.
American Journal of Human Genetics
|
January 13, 2001
A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16
N Lee, M J Daly, T Delmonte, et al.
American Journal of Human Genetics
|
April 16, 1998
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q
G A Mitchell, P T Ozand, M F Robert, et al.
Page
of 11