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Georg F Hoffmann

Showing results (261-270 of 381) with videos related to

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Journal of Neurochemistry|April 1, 2006
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiencySven W Sauer, Jürgen G Okun, Gert Fricker, et al.
The Journal of Pediatrics|November 17, 2009
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cardsHongying Gan-Schreier, Moustafa Kebbewar, Junmin Fang-Hoffmann, et al.
Journal of Inherited Metabolic Disease|October 28, 2010
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometryOsama Y Al-Dirbashi, Stefan Kölker, Dione Ng, et al.
Computational and Structural Biotechnology Journal|February 15, 2023
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessmentJulian Schröter, Tal Dattner, Jennifer Hüllein, et al.
Journal of Inherited Metabolic Disease|June 19, 2021
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduriaHeiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, et al.
Cell Reports|November 17, 2016
Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis ComplexDarius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, et al.
Pediatric Research|July 12, 2007
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in GermanyStefan Kölker, Sven F Garbade, Nikolas Boy, et al.
Human Molecular Genetics|March 18, 2005
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidasePhilippa B Mills, Robert A H Surtees, Michael P Champion, et al.
Cell Reports|October 21, 2016
Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis ComplexDarius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|July 28, 2016
A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screeningSophia Weidler, Konrad H Stopsack, Jutta Hammermann, et al.
Pageof 39

Showing results (261-270 of 381) with videos related to

Sort By:
Pageof 39
Journal of Neurochemistry|April 1, 2006
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiencySven W Sauer, Jürgen G Okun, Gert Fricker, et al.
The Journal of Pediatrics|November 17, 2009
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cardsHongying Gan-Schreier, Moustafa Kebbewar, Junmin Fang-Hoffmann, et al.
Journal of Inherited Metabolic Disease|October 28, 2010
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometryOsama Y Al-Dirbashi, Stefan Kölker, Dione Ng, et al.
Computational and Structural Biotechnology Journal|February 15, 2023
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessmentJulian Schröter, Tal Dattner, Jennifer Hüllein, et al.
Journal of Inherited Metabolic Disease|June 19, 2021
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduriaHeiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, et al.
Cell Reports|November 17, 2016
Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis ComplexDarius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, et al.
Pediatric Research|July 12, 2007
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in GermanyStefan Kölker, Sven F Garbade, Nikolas Boy, et al.
Human Molecular Genetics|March 18, 2005
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidasePhilippa B Mills, Robert A H Surtees, Michael P Champion, et al.
Cell Reports|October 21, 2016
Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis ComplexDarius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|July 28, 2016
A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screeningSophia Weidler, Konrad H Stopsack, Jutta Hammermann, et al.
Pageof 39