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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 Xq28
E 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) syndrome
R 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) syndrome
R 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 cases
H 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 abnormalities
M 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 aciduria
K 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 13
N 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 levels
C 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 protein
M J Ligtenberg, S Kemp, C O Sarde, et al.
Page
of 18
Search research articles
Search
Showing results (151-160 of 177) with videos related to
Sort By:
Page
of 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 Xq28
E 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) syndrome
R 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) syndrome
R 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 cases
H 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 abnormalities
M 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 aciduria
K 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 13
N 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 levels
C 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 protein
M J Ligtenberg, S Kemp, C O Sarde, et al.
Page
of 18