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Brian Fowler

Showing results (51-60 of 138) with videos related to

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Journal of Inherited Metabolic Disease|October 16, 2016
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression systemPatricie Burda, Terttu Suormala, Dorothea Heuberger, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 9, 2002
Neonatal hepatic steatosis by disruption of the adenosine kinase geneDetlev Boison, Louis Scheurer, Valérie Zumsteg, et al.
Human Mutation|January 15, 2004
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuriaStuart J Moat, Liming Bao, Brian Fowler, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|June 10, 2011
Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trialMichael Freilinger, Daniela Dunkler, Ines Lanator, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 7, 2010
Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutationsDeborah Bathgate, Patrick Yu-Wai-Man, Brian Webb, et al.
Human Mutation|July 13, 2005
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screeningMaria Fernanda Dantas, Terttu Suormala, Ann Randolph, et al.
Functional & Integrative Genomics|June 16, 2006
Identification of quantitative trait loci and associated candidate genes for low-temperature tolerance in cold-hardy winter wheatMonica Båga, Sanjay V Chodaparambil, Allen E Limin, et al.
Molecular Genetics and Metabolism|November 23, 2006
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutationsThomas J Lempp, Terttu Suormala, Renate Siegenthaler, et al.
Human Mutation|May 12, 2016
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUTPatrick Forny, Anne-Sophie Schnellmann, Celine Buerer, et al.
Journal of Neurological Surgery. Part B, Skull Base|June 30, 2022
Pediatric Orbital Roof Fractures: A Ratio of Orbital Dimensions Correlated to Prevalence of FractureStephen C Dryden, Andrew G Meador, Andrew B Johnston, et al.
Pageof 14

Showing results (51-60 of 138) with videos related to

Sort By:
Pageof 14
Journal of Inherited Metabolic Disease|October 16, 2016
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression systemPatricie Burda, Terttu Suormala, Dorothea Heuberger, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 9, 2002
Neonatal hepatic steatosis by disruption of the adenosine kinase geneDetlev Boison, Louis Scheurer, Valérie Zumsteg, et al.
Human Mutation|January 15, 2004
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuriaStuart J Moat, Liming Bao, Brian Fowler, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|June 10, 2011
Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trialMichael Freilinger, Daniela Dunkler, Ines Lanator, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 7, 2010
Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutationsDeborah Bathgate, Patrick Yu-Wai-Man, Brian Webb, et al.
Human Mutation|July 13, 2005
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screeningMaria Fernanda Dantas, Terttu Suormala, Ann Randolph, et al.
Functional & Integrative Genomics|June 16, 2006
Identification of quantitative trait loci and associated candidate genes for low-temperature tolerance in cold-hardy winter wheatMonica Båga, Sanjay V Chodaparambil, Allen E Limin, et al.
Molecular Genetics and Metabolism|November 23, 2006
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutationsThomas J Lempp, Terttu Suormala, Renate Siegenthaler, et al.
Human Mutation|May 12, 2016
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUTPatrick Forny, Anne-Sophie Schnellmann, Celine Buerer, et al.
Journal of Neurological Surgery. Part B, Skull Base|June 30, 2022
Pediatric Orbital Roof Fractures: A Ratio of Orbital Dimensions Correlated to Prevalence of FractureStephen C Dryden, Andrew G Meador, Andrew B Johnston, et al.
Pageof 14