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Georg F Hoffmann

Showing results (231-240 of 381) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Correspondence on "Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)" by Smith et alPeter Burgard, Diana Ballhausen, Julia B Hennermann, et al.
Human Mutation|June 22, 2021
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorderFrancesca Semino, Julian Schröter, Marjolein H Willemsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiencyFranziska Simm, Anne Griesbeck, Daniela Choukair, et al.
Annals of Neurology|August 2, 2003
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystoniaGeorg F Hoffmann, Birgit Assmann, Christa Bräutigam, et al.
Neurochemistry International|September 1, 2004
Evidence that 3-hydroxyglutaric acid interacts with NMDA receptors in synaptic plasma membranes from cerebral cortex of young ratsRafael B Rosa, Carolina Schwarzbold, Karina B Dalcin, et al.
Diabetes|May 23, 2014
Recessive mutations in PCBD1 cause a new type of early-onset diabetesDeimante Simaite, Julia Kofent, Maolian Gong, et al.
Annals of Neurology|October 30, 2010
Use of guidelines improves the neurological outcome in glutaric aciduria type IJana Heringer, S P Nikolas Boy, Regina Ensenauer, et al.
Journal of Inherited Metabolic Disease|September 22, 2022
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screeningUlrike Mütze, Sven F Garbade, Florian Gleich, et al.
Amino Acids|November 17, 2009
Relevance of allosteric conformations and homocarnosine concentration on carnosinase activityVerena Peters, Moustafa Kebbewar, Erwin W Jansen, et al.
Journal of Inherited Metabolic Disease|May 4, 2016
Genetic cause and prevalence of hydroxyprolinemiaChristian Staufner, Tobias B Haack, Patrik Feyh, et al.
Pageof 39

Showing results (231-240 of 381) with videos related to

Sort By:
Pageof 39
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Correspondence on "Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)" by Smith et alPeter Burgard, Diana Ballhausen, Julia B Hennermann, et al.
Human Mutation|June 22, 2021
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorderFrancesca Semino, Julian Schröter, Marjolein H Willemsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiencyFranziska Simm, Anne Griesbeck, Daniela Choukair, et al.
Annals of Neurology|August 2, 2003
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystoniaGeorg F Hoffmann, Birgit Assmann, Christa Bräutigam, et al.
Neurochemistry International|September 1, 2004
Evidence that 3-hydroxyglutaric acid interacts with NMDA receptors in synaptic plasma membranes from cerebral cortex of young ratsRafael B Rosa, Carolina Schwarzbold, Karina B Dalcin, et al.
Diabetes|May 23, 2014
Recessive mutations in PCBD1 cause a new type of early-onset diabetesDeimante Simaite, Julia Kofent, Maolian Gong, et al.
Annals of Neurology|October 30, 2010
Use of guidelines improves the neurological outcome in glutaric aciduria type IJana Heringer, S P Nikolas Boy, Regina Ensenauer, et al.
Journal of Inherited Metabolic Disease|September 22, 2022
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screeningUlrike Mütze, Sven F Garbade, Florian Gleich, et al.
Amino Acids|November 17, 2009
Relevance of allosteric conformations and homocarnosine concentration on carnosinase activityVerena Peters, Moustafa Kebbewar, Erwin W Jansen, et al.
Journal of Inherited Metabolic Disease|May 4, 2016
Genetic cause and prevalence of hydroxyprolinemiaChristian Staufner, Tobias B Haack, Patrik Feyh, et al.
Pageof 39