M T Geraghty - JoVE Visualize

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Molecular Genetics and Metabolism|April 5, 2001

Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 geneV Praphanphoj, K A Sacksteder, S J Gould, et al.

American Journal of Medical Genetics|December 14, 1999

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndromeS Sigurdardottir, B K Goodman, J Rutberg, et al.

American Journal of Ophthalmology|March 15, 1992

Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuriaE I Traboulsi, J C Silva, M T Geraghty, et al.

The Journal of Pediatrics|October 13, 1999

Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndromeP C Rowe, D F Barron, H Calkins, et al.

Biochemical and Biophysical Research Communications|June 25, 1999

Preliminary characterization of Yor180Cp: identification of a novel peroxisomal protein of saccharomyces cerevisiae involved in fatty acid metabolismB V Geisbrecht, K Schulz, K Nau, et al.

Journal of Medical Genetics|September 11, 1998

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndromeN Flanagan, S A Boyadjiev, J Harper, et al.

Genomics|April 25, 2000

Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)V Praphanphoj, B K Goodman, G H Thomas, et al.

Journal of Inherited Metabolic Disease|July 23, 2003

The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemiaZ N Al-Hassnan, S A Boyadjiev, V Praphanphoj, et al.

The Journal of Pediatrics|June 1, 1992

Cobalamin C defect associated with hemolytic-uremic syndromeM T Geraghty, E J Perlman, L S Martin, et al.

Clinical Genetics|July 13, 2013

Whole-exome sequencing expands the phenotype of Hunter syndromeS M Nikkel, L Huang, R Lachman, et al.

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Showing results (11-20 of 41) with videos related to

Sort By:

Pageof 5

Molecular Genetics and Metabolism|April 5, 2001

Identification of the alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase gene, the human ortholog of the yeast LYS5 geneV Praphanphoj, K A Sacksteder, S J Gould, et al.

American Journal of Medical Genetics|December 14, 1999

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndromeS Sigurdardottir, B K Goodman, J Rutberg, et al.

American Journal of Ophthalmology|March 15, 1992

Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuriaE I Traboulsi, J C Silva, M T Geraghty, et al.

The Journal of Pediatrics|October 13, 1999

Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndromeP C Rowe, D F Barron, H Calkins, et al.

Biochemical and Biophysical Research Communications|June 25, 1999

Preliminary characterization of Yor180Cp: identification of a novel peroxisomal protein of saccharomyces cerevisiae involved in fatty acid metabolismB V Geisbrecht, K Schulz, K Nau, et al.

Journal of Medical Genetics|September 11, 1998

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndromeN Flanagan, S A Boyadjiev, J Harper, et al.

Genomics|April 25, 2000

Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)V Praphanphoj, B K Goodman, G H Thomas, et al.

Journal of Inherited Metabolic Disease|July 23, 2003

The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemiaZ N Al-Hassnan, S A Boyadjiev, V Praphanphoj, et al.

The Journal of Pediatrics|June 1, 1992

Cobalamin C defect associated with hemolytic-uremic syndromeM T Geraghty, E J Perlman, L S Martin, et al.

Clinical Genetics|July 13, 2013

Whole-exome sequencing expands the phenotype of Hunter syndromeS M Nikkel, L Huang, R Lachman, et al.

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