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J Zschocke

Showing results (71-80 of 86) with videos related to

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Pediatric Research|March 27, 2001
Normal clinical outcome in untreated subjects with mild hyperphenylalaninemiaJ Weglage, M Pietsch, R Feldmann, et al.
Neurology|April 27, 2005
Leukoencephalopathy with ataxia, hypodontia, and hypomyelinationN I Wolf, I Harting, E Boltshauser, et al.
Clinical Genetics|October 15, 2013
Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomaliesA Spreiz, E Haberlandt, M Baumann, et al.
Clinical Genetics|June 30, 2010
Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysisV Grossmann, M Höckner, H Karmous-Benailly, et al.
Neurology|May 12, 2004
Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSFN I Wolf, M A A P Willemsen, U F Engelke, et al.
Neuropediatrics|November 5, 2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamenS Kölker, G F Hoffmann, D S M Schor, et al.
Regulatory Peptides|September 20, 2014
Carnosine treatment in combination with ACE inhibition in diabetic ratsV Peters, E Riedl, M Braunagel, et al.
American Journal of Human Genetics|June 23, 1998
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotypeP Guldberg, F Rey, J Zschocke, et al.
Journal of Inherited Metabolic Disease|January 12, 2007
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathyG F Hoffmann, B Schmitt, M Windfuhr, et al.
Journal of Dental Research|February 5, 2025
Dental Management of Genetic Dental Disorders: A Critical ReviewH Dujic, K Bücher, I M Schüler, et al.
Pageof 9

Showing results (71-80 of 86) with videos related to

Sort By:
Pageof 9
Pediatric Research|March 27, 2001
Normal clinical outcome in untreated subjects with mild hyperphenylalaninemiaJ Weglage, M Pietsch, R Feldmann, et al.
Neurology|April 27, 2005
Leukoencephalopathy with ataxia, hypodontia, and hypomyelinationN I Wolf, I Harting, E Boltshauser, et al.
Clinical Genetics|October 15, 2013
Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomaliesA Spreiz, E Haberlandt, M Baumann, et al.
Clinical Genetics|June 30, 2010
Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysisV Grossmann, M Höckner, H Karmous-Benailly, et al.
Neurology|May 12, 2004
Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSFN I Wolf, M A A P Willemsen, U F Engelke, et al.
Neuropediatrics|November 5, 2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamenS Kölker, G F Hoffmann, D S M Schor, et al.
Regulatory Peptides|September 20, 2014
Carnosine treatment in combination with ACE inhibition in diabetic ratsV Peters, E Riedl, M Braunagel, et al.
American Journal of Human Genetics|June 23, 1998
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotypeP Guldberg, F Rey, J Zschocke, et al.
Journal of Inherited Metabolic Disease|January 12, 2007
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathyG F Hoffmann, B Schmitt, M Windfuhr, et al.
Journal of Dental Research|February 5, 2025
Dental Management of Genetic Dental Disorders: A Critical ReviewH Dujic, K Bücher, I M Schüler, et al.
Pageof 9