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Peter G Barth

Showing results (11-20 of 40) with videos related to

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The Journal of Biological Chemistry|August 22, 2003
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolismFrédéric M Vaz, Riekelt H Houtkooper, Fredoen Valianpour, et al.
Orphanet Journal of Rare Diseases|November 1, 2013
The neurology of rhizomelic chondrodysplasia punctataAnnemieke M Bams-Mengerink, Johannes Htm Koelman, Hans Waterham, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 4, 2014
Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasiaMatthan W A Caan, Peter G Barth, Jikke-Mien Niermeijer, et al.
Orphanet Journal of Rare Diseases|November 9, 2019
Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview studyIyar Mazar, Jonathan Stokes, Sarah Ollis, et al.
American Journal of Medical Genetics. Part A|April 21, 2004
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an updatePeter G Barth, Fredoen Valianpour, Valerie M Bowen, et al.
Journal of Inherited Metabolic Disease|January 9, 2013
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureSaskia B Wortmann, Marinus Duran, Yair Anikster, et al.
AJNR. American Journal of Neuroradiology|May 15, 2002
Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case reportCharles B Majoie, Erik M Akkerman, Christian Blank, et al.
Molecular Genetics and Metabolism|January 27, 2005
Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophyStephan Kemp, Fredoen Valianpour, Simone Denis, et al.
Neuromuscular Disorders : NMD|September 11, 2007
Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)Peter G Barth, Monique M Ryan, Richard I Webster, et al.
European Journal of Human Genetics : EJHG|March 4, 2011
TSEN54 mutations cause pontocerebellar hypoplasia type 5Yasmin Namavar, David Chitayat, Peter G Barth, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
The Journal of Biological Chemistry|August 22, 2003
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolismFrédéric M Vaz, Riekelt H Houtkooper, Fredoen Valianpour, et al.
Orphanet Journal of Rare Diseases|November 1, 2013
The neurology of rhizomelic chondrodysplasia punctataAnnemieke M Bams-Mengerink, Johannes Htm Koelman, Hans Waterham, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 4, 2014
Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasiaMatthan W A Caan, Peter G Barth, Jikke-Mien Niermeijer, et al.
Orphanet Journal of Rare Diseases|November 9, 2019
Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview studyIyar Mazar, Jonathan Stokes, Sarah Ollis, et al.
American Journal of Medical Genetics. Part A|April 21, 2004
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an updatePeter G Barth, Fredoen Valianpour, Valerie M Bowen, et al.
Journal of Inherited Metabolic Disease|January 9, 2013
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureSaskia B Wortmann, Marinus Duran, Yair Anikster, et al.
AJNR. American Journal of Neuroradiology|May 15, 2002
Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case reportCharles B Majoie, Erik M Akkerman, Christian Blank, et al.
Molecular Genetics and Metabolism|January 27, 2005
Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophyStephan Kemp, Fredoen Valianpour, Simone Denis, et al.
Neuromuscular Disorders : NMD|September 11, 2007
Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)Peter G Barth, Monique M Ryan, Richard I Webster, et al.
European Journal of Human Genetics : EJHG|March 4, 2011
TSEN54 mutations cause pontocerebellar hypoplasia type 5Yasmin Namavar, David Chitayat, Peter G Barth, et al.
Pageof 4