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Journal of Medical Genetics
|
May 23, 2001
Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism
M B Coulter-Mackie, J Rip, M J Beis, et al.
Journal of Medical Genetics
|
October 1, 1995
Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22
M B Coulter-Mackie, J Rip, M D Ludman, et al.
American Journal of Human Genetics
|
December 1, 1986
Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts
P N Graves, G A Grabowski, M D Ludman, et al.
Metabolism: Clinical and Experimental
|
December 1, 1989
Resting energy expenditure in Gaucher's disease type 1: effect of Gaucher's cell burden on energy requirements
D J Barton, M D Ludman, K Benkov, et al.
The Journal of Investigative Dermatology
|
November 1, 1986
Antenatal diagnosis of recessive dystrophic epidermolysis bullosa: collagenase expression in cultured fibroblasts as a biochemical marker
E A Bauer, M D Ludman, J D Goldberg, et al.
Journal of Pediatric Surgery
|
June 1, 1989
Gaucher disease: fate of the splenic remnant after partial splenectomy--a case of rapid enlargement
P R Fleshner, D J Astion, M D Ludman, et al.
Human Molecular Genetics
|
October 1, 1994
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene
C M Eng, D J Niehaus, A L Enriquez, et al.
Muscle & Nerve
|
March 1, 1988
Hexosaminidase A activity and amyotrophic lateral sclerosis
M Gudesblatt, M D Ludman, J A Cohen, et al.
Journal of Medical Genetics
|
February 26, 2000
Absence of fragile X syndrome in Nova Scotia
R G Beresford, C Tatlidil, D C Riddell, et al.
Journal of Medical Genetics
|
June 1, 1997
Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene
M B Coulter-Mackie, L Gagnier, M J Beis, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 24) with videos related to
Sort By:
Page
of 3
Journal of Medical Genetics
|
May 23, 2001
Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism
M B Coulter-Mackie, J Rip, M J Beis, et al.
Journal of Medical Genetics
|
October 1, 1995
Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22
M B Coulter-Mackie, J Rip, M D Ludman, et al.
American Journal of Human Genetics
|
December 1, 1986
Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts
P N Graves, G A Grabowski, M D Ludman, et al.
Metabolism: Clinical and Experimental
|
December 1, 1989
Resting energy expenditure in Gaucher's disease type 1: effect of Gaucher's cell burden on energy requirements
D J Barton, M D Ludman, K Benkov, et al.
The Journal of Investigative Dermatology
|
November 1, 1986
Antenatal diagnosis of recessive dystrophic epidermolysis bullosa: collagenase expression in cultured fibroblasts as a biochemical marker
E A Bauer, M D Ludman, J D Goldberg, et al.
Journal of Pediatric Surgery
|
June 1, 1989
Gaucher disease: fate of the splenic remnant after partial splenectomy--a case of rapid enlargement
P R Fleshner, D J Astion, M D Ludman, et al.
Human Molecular Genetics
|
October 1, 1994
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene
C M Eng, D J Niehaus, A L Enriquez, et al.
Muscle & Nerve
|
March 1, 1988
Hexosaminidase A activity and amyotrophic lateral sclerosis
M Gudesblatt, M D Ludman, J A Cohen, et al.
Journal of Medical Genetics
|
February 26, 2000
Absence of fragile X syndrome in Nova Scotia
R G Beresford, C Tatlidil, D C Riddell, et al.
Journal of Medical Genetics
|
June 1, 1997
Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene
M B Coulter-Mackie, L Gagnier, M J Beis, et al.
Page
of 3