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F Hoffmann

Showing results (921-930 of 1,255) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1995
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiencyG F Hoffmann, H J Böhles, A Burlina, et al.
American Journal of Human Genetics|September 11, 2004
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapyMatthias R Baumgartner, M Fernanda Dantas, Terttu Suormala, et al.
Rheumatology (Oxford, England)|March 17, 2004
Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148QS Stojanov, P Lohse, M F McDermott, et al.
Pediatrics|December 1, 1991
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathyG F Hoffmann, F K Trefz, P G Barth, et al.
Clinical Chemistry|April 15, 2006
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometrySusen Hartmann, Jürgen G Okun, Christiane Schmidt, et al.
The Journal of Clinical Investigation|March 20, 2002
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IIdBengt Hansske, Christian Thiel, Torben Lübke, et al.
Molecular Genetics and Metabolism|April 7, 2019
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlookNastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, et al.
Arthritis and Rheumatism|June 10, 2004
Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versaSilvia Stojanov, Peter Lohse, Pia Lohse, et al.
Plos Pathogens|May 22, 2018
Histone methylation changes are required for life cycle progression in the human parasite Schistosoma mansoniDavid Roquis, Aaron Taudt, Kathrin K Geyer, et al.
Journal of Medical Genetics|January 24, 2007
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblastsD Haas, J Morgenthaler, F Lacbawan, et al.
Pageof 126

Showing results (921-930 of 1,255) with videos related to

Sort By:
Pageof 126
Journal of Inherited Metabolic Disease|January 1, 1995
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiencyG F Hoffmann, H J Böhles, A Burlina, et al.
American Journal of Human Genetics|September 11, 2004
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapyMatthias R Baumgartner, M Fernanda Dantas, Terttu Suormala, et al.
Rheumatology (Oxford, England)|March 17, 2004
Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148QS Stojanov, P Lohse, M F McDermott, et al.
Pediatrics|December 1, 1991
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathyG F Hoffmann, F K Trefz, P G Barth, et al.
Clinical Chemistry|April 15, 2006
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometrySusen Hartmann, Jürgen G Okun, Christiane Schmidt, et al.
The Journal of Clinical Investigation|March 20, 2002
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IIdBengt Hansske, Christian Thiel, Torben Lübke, et al.
Molecular Genetics and Metabolism|April 7, 2019
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlookNastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, et al.
Arthritis and Rheumatism|June 10, 2004
Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versaSilvia Stojanov, Peter Lohse, Pia Lohse, et al.
Plos Pathogens|May 22, 2018
Histone methylation changes are required for life cycle progression in the human parasite Schistosoma mansoniDavid Roquis, Aaron Taudt, Kathrin K Geyer, et al.
Journal of Medical Genetics|January 24, 2007
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblastsD Haas, J Morgenthaler, F Lacbawan, et al.
Pageof 126