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P G Barth

Showing results (151-160 of 177) with videos related to

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Neuromuscular Disorders : NMD|September 1, 1994
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28E A Janssen, G W Hensels, B A van Oost, et al.
American Journal of Human Genetics|March 1, 1995
Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)P E Taschner, N de Vos, A D Thompson, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 30, 1987
Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndromeR J Wanders, W Smit, H S Heymans, et al.
Experimental Cell Research|May 1, 1987
Peroxisomes and peroxisomal functions in muscle. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndromeR J Wanders, P G Barth, C W van Roermund, et al.
Clinical Dysmorphology|January 1, 1993
Some variants of lethal neonatal short-limbed platyspondylic dysplasia: a radiological ultrasonographic, neuropathological and histopathological study of 22 casesH J van der Harten, J T Brons, P F Dijkstra, et al.
Annals of Neurology|July 1, 1997
Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalitiesM S van der Knaap, L M Smit, P G Barth, et al.
The Journal of Pediatrics|June 1, 1991
Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduriaK M Gibson, W G Sherwood, G F Hoffman, et al.
Biochemical and Biophysical Research Communications|March 3, 1998
Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13N Shimozawa, Y Suzuki, Z Zhang, et al.
American Journal of Human Genetics|June 5, 2001
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levelsC Walter, J Gootjes, P A Mooijer, et al.
American Journal of Human Genetics|January 1, 1995
Spectrum of mutations in the gene encoding the adrenoleukodystrophy proteinM J Ligtenberg, S Kemp, C O Sarde, et al.
Pageof 18

Showing results (151-160 of 177) with videos related to

Sort By:
Pageof 18
Neuromuscular Disorders : NMD|September 1, 1994
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28E A Janssen, G W Hensels, B A van Oost, et al.
American Journal of Human Genetics|March 1, 1995
Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)P E Taschner, N de Vos, A D Thompson, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 30, 1987
Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndromeR J Wanders, W Smit, H S Heymans, et al.
Experimental Cell Research|May 1, 1987
Peroxisomes and peroxisomal functions in muscle. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndromeR J Wanders, P G Barth, C W van Roermund, et al.
Clinical Dysmorphology|January 1, 1993
Some variants of lethal neonatal short-limbed platyspondylic dysplasia: a radiological ultrasonographic, neuropathological and histopathological study of 22 casesH J van der Harten, J T Brons, P F Dijkstra, et al.
Annals of Neurology|July 1, 1997
Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalitiesM S van der Knaap, L M Smit, P G Barth, et al.
The Journal of Pediatrics|June 1, 1991
Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduriaK M Gibson, W G Sherwood, G F Hoffman, et al.
Biochemical and Biophysical Research Communications|March 3, 1998
Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13N Shimozawa, Y Suzuki, Z Zhang, et al.
American Journal of Human Genetics|June 5, 2001
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levelsC Walter, J Gootjes, P A Mooijer, et al.
American Journal of Human Genetics|January 1, 1995
Spectrum of mutations in the gene encoding the adrenoleukodystrophy proteinM J Ligtenberg, S Kemp, C O Sarde, et al.
Pageof 18