Search research articles
Contact Us
Filters
Showing results (71-80 of 156) with videos related to
Page
of 16
Sort By:
American Journal of Human Genetics
|
January 1, 1996
Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis
M T Vanier, S Duthel, C Rodriguez-Lafrasse, et al.
Archives Francaises De Pediatrie
|
November 1, 1978
[Infantile form of Gaucher's disease. Clinical and biological studies in 1 case. Prenatal diagnosis in 2 further normal pregnancies]
P Guibaud, I Maire, M T Vanier, et al.
Human Molecular Genetics
|
June 22, 2000
Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency)
J Tohyama, M T Vanier, K Suzuki, et al.
Journal of Immunological Methods
|
April 2, 1993
Preparation of an anti-acid sphingomyelinase monoclonal antibody for the quantitative determination and polypeptide analysis of lysosomal sphingomyelinase in fibroblasts from normal and Niemann-Pick type A patients
R Rousson, P Parvaz, J Bonnet, et al.
The Biochemical Journal
|
August 1, 1997
Modulation of protein kinase C by endogenous sphingosine: inhibition of phorbol dibutyrate binding in Niemann-Pick C fibroblasts
C Rodriguez-Lafrasse, R Rousson, S Valla, et al.
Molecular Genetics and Metabolism
|
August 5, 2000
Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group
H Christomanou, M T Vanier, P Santambrogio, et al.
Neuropadiatrie
|
February 1, 1978
Neurovisceral storage disorder simulating Niemann-Pick disease. A new form of oligosaccharidosis?
B Hagberg, M Haltia, P Sourander, et al.
Journal of the Neurological Sciences
|
July 4, 2006
Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale
C Iturriaga, M Pineda, E M Fernández-Valero, et al.
Clinical Genetics
|
August 1, 1981
Prenatal diagnosis of Krabbe disease
M T Vanier, L Svennerholm, J E Månsson, et al.
Human Genetics
|
October 1, 1993
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa
M T Vanier, K Ferlinz, R Rousson, et al.
Page
of 16
Search research articles
Search
Showing results (71-80 of 156) with videos related to
Sort By:
Page
of 16
American Journal of Human Genetics
|
January 1, 1996
Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis
M T Vanier, S Duthel, C Rodriguez-Lafrasse, et al.
Archives Francaises De Pediatrie
|
November 1, 1978
[Infantile form of Gaucher's disease. Clinical and biological studies in 1 case. Prenatal diagnosis in 2 further normal pregnancies]
P Guibaud, I Maire, M T Vanier, et al.
Human Molecular Genetics
|
June 22, 2000
Paradoxical influence of acid beta-galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency)
J Tohyama, M T Vanier, K Suzuki, et al.
Journal of Immunological Methods
|
April 2, 1993
Preparation of an anti-acid sphingomyelinase monoclonal antibody for the quantitative determination and polypeptide analysis of lysosomal sphingomyelinase in fibroblasts from normal and Niemann-Pick type A patients
R Rousson, P Parvaz, J Bonnet, et al.
The Biochemical Journal
|
August 1, 1997
Modulation of protein kinase C by endogenous sphingosine: inhibition of phorbol dibutyrate binding in Niemann-Pick C fibroblasts
C Rodriguez-Lafrasse, R Rousson, S Valla, et al.
Molecular Genetics and Metabolism
|
August 5, 2000
Deficient ferritin immunoreactivity in tissues from niemann-pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group
H Christomanou, M T Vanier, P Santambrogio, et al.
Neuropadiatrie
|
February 1, 1978
Neurovisceral storage disorder simulating Niemann-Pick disease. A new form of oligosaccharidosis?
B Hagberg, M Haltia, P Sourander, et al.
Journal of the Neurological Sciences
|
July 4, 2006
Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale
C Iturriaga, M Pineda, E M Fernández-Valero, et al.
Clinical Genetics
|
August 1, 1981
Prenatal diagnosis of Krabbe disease
M T Vanier, L Svennerholm, J E Månsson, et al.
Human Genetics
|
October 1, 1993
Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa
M T Vanier, K Ferlinz, R Rousson, et al.
Page
of 16