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Brian Fowler

Showing results (101-110 of 138) with videos related to

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Human Mutation|February 17, 2005
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expressionPetra Zavadáková, Brian Fowler, Terttu Suormala, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|January 26, 2019
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiencyKathrin Heuberger, Henry J Bailey, Patricie Burda, et al.
Neurology|July 13, 2012
Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathyOlivier Outteryck, Jérôme de Sèze, Tanya Stojkovic, et al.
Ophthalmology and Therapy|April 21, 2025
Large Language Models: Pioneering New Educational Frontiers in Childhood MyopiaMohammad Delsoz, Amr Hassan, Amin Nabavi, et al.
The Journal of Biological Chemistry|June 3, 2017
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B<sub>12</sub>-trafficking proteins ABCD4 and LMBD1Victoria Fettelschoss, Patricie Burda, Corinne Sagné, et al.
The Journal of Pediatrics|December 9, 2008
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolismIsabelle R Miousse, David Watkins, David Coelho, et al.
Nucleic Acids Research|April 17, 2015
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cellsBruno Palhais, Veronica S Præstegaard, Rugivan Sabaratnam, et al.
Journal of Human Genetics|October 25, 2019
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesisArnaud Wiedemann, Céline Chery, David Coelho, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Reply to Sajantila and BudowleDavid E Barton, Mireille Claustres, Viktor Kozich, et al.
Human Mutation|March 5, 2015
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patientsPatricie Burda, Alexandra Schäfer, Terttu Suormala, et al.
Pageof 14

Showing results (101-110 of 138) with videos related to

Sort By:
Pageof 14
Human Mutation|February 17, 2005
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expressionPetra Zavadáková, Brian Fowler, Terttu Suormala, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|January 26, 2019
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiencyKathrin Heuberger, Henry J Bailey, Patricie Burda, et al.
Neurology|July 13, 2012
Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathyOlivier Outteryck, Jérôme de Sèze, Tanya Stojkovic, et al.
Ophthalmology and Therapy|April 21, 2025
Large Language Models: Pioneering New Educational Frontiers in Childhood MyopiaMohammad Delsoz, Amr Hassan, Amin Nabavi, et al.
The Journal of Biological Chemistry|June 3, 2017
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B<sub>12</sub>-trafficking proteins ABCD4 and LMBD1Victoria Fettelschoss, Patricie Burda, Corinne Sagné, et al.
The Journal of Pediatrics|December 9, 2008
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolismIsabelle R Miousse, David Watkins, David Coelho, et al.
Nucleic Acids Research|April 17, 2015
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cellsBruno Palhais, Veronica S Præstegaard, Rugivan Sabaratnam, et al.
Journal of Human Genetics|October 25, 2019
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesisArnaud Wiedemann, Céline Chery, David Coelho, et al.
European Journal of Human Genetics : EJHG|January 15, 2015
Reply to Sajantila and BudowleDavid E Barton, Mireille Claustres, Viktor Kozich, et al.
Human Mutation|March 5, 2015
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patientsPatricie Burda, Alexandra Schäfer, Terttu Suormala, et al.
Pageof 14