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J Zschocke

Showing results (51-60 of 86) with videos related to

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Human Genetics|August 2, 2001
Genetic basis of mitochondrial HMG-CoA synthase deficiencyR Aledo, J Zschocke, J Pié, et al.
Neurology|February 26, 2003
The phenylalanine loading test in the differential diagnosis of dystoniaO Bandmann, M Goertz, J Zschocke, et al.
Journal of Inherited Metabolic Disease|June 21, 2026
Mapping the Severity of Phenylalanine Hydroxylase DeficiencyS Haitjema, E M van Steenis, C M A Lubout, et al.
BMJ Case Reports|June 21, 2011
Pyridoxal phosphate-dependent neonatal epileptic encephalopathyS Bagci, J Zschocke, G F Hoffmann, et al.
Journal of Medical Genetics|November 1, 1995
Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effectsL A Tyfield, J Zschocke, A Stephenson, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|February 26, 2008
Pyridoxal phosphate-dependent neonatal epileptic encephalopathyS Bagci, J Zschocke, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease|May 15, 2007
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)D Haas, S F Garbade, C Vohwinkel, et al.
Human Mutation|March 19, 2005
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and ItalyM Witsch-Baumgartner, P Clayton, N Clusellas, et al.
Human Genetics|June 21, 2001
Molecular and functional characterisation of mild MCAD deficiencyJ Zschocke, A Schulze, M Lindner, et al.
The British Journal of Dermatology|November 18, 2014
Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTAV Moosbrugger-Martinz, A Jalili, A S Schossig, et al.
Pageof 9

Showing results (51-60 of 86) with videos related to

Sort By:
Pageof 9
Human Genetics|August 2, 2001
Genetic basis of mitochondrial HMG-CoA synthase deficiencyR Aledo, J Zschocke, J Pié, et al.
Neurology|February 26, 2003
The phenylalanine loading test in the differential diagnosis of dystoniaO Bandmann, M Goertz, J Zschocke, et al.
Journal of Inherited Metabolic Disease|June 21, 2026
Mapping the Severity of Phenylalanine Hydroxylase DeficiencyS Haitjema, E M van Steenis, C M A Lubout, et al.
BMJ Case Reports|June 21, 2011
Pyridoxal phosphate-dependent neonatal epileptic encephalopathyS Bagci, J Zschocke, G F Hoffmann, et al.
Journal of Medical Genetics|November 1, 1995
Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effectsL A Tyfield, J Zschocke, A Stephenson, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|February 26, 2008
Pyridoxal phosphate-dependent neonatal epileptic encephalopathyS Bagci, J Zschocke, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease|May 15, 2007
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)D Haas, S F Garbade, C Vohwinkel, et al.
Human Mutation|March 19, 2005
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and ItalyM Witsch-Baumgartner, P Clayton, N Clusellas, et al.
Human Genetics|June 21, 2001
Molecular and functional characterisation of mild MCAD deficiencyJ Zschocke, A Schulze, M Lindner, et al.
The British Journal of Dermatology|November 18, 2014
Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTAV Moosbrugger-Martinz, A Jalili, A S Schossig, et al.
Pageof 9