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M T Zabot

Showing results (51-60 of 54) with videos related to

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Human Genetics|June 1, 1997
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiencyC Marsac, C Benelli, I Desguerre, et al.
Human Molecular Genetics|April 1, 1996
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD geneB S Andresen, P Bross, C Vianey-Saban, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 24, 2014
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolutionN Deconinck, P Richard, V Allamand, et al.
Human Mutation|February 19, 2000
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasiaA Taillandier, E Cozien, F Muller, et al.
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Showing results (51-60 of 54) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 54 results.
Human Genetics|June 1, 1997
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiencyC Marsac, C Benelli, I Desguerre, et al.
Human Molecular Genetics|April 1, 1996
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD geneB S Andresen, P Bross, C Vianey-Saban, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 24, 2014
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolutionN Deconinck, P Richard, V Allamand, et al.
Human Mutation|February 19, 2000
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasiaA Taillandier, E Cozien, F Muller, et al.
Pageof 6