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Progress in Clinical and Biological Research
|
January 1, 1982
Gaucher disease: a century of delineation and understanding
R J Desnick
Journal of Inherited Metabolic Disease
|
June 11, 2004
Enzyme replacement and enhancement therapies for lysosomal diseases
R J Desnick
Journal of Inherited Metabolic Disease
|
June 19, 2001
Enzyme replacement and beyond
R J Desnick
The Mount Sinai Journal of Medicine, New York
|
November 1, 1982
Gaucher disease (1882-1982): centennial perspectives on the most prevalent Jewish genetic disease
R J Desnick
American Journal of Medical Genetics
|
February 25, 1998
Association of Professors of Human and Medical Genetics: summary of the third annual workshop
R J Desnick
The Journal of Pediatrics
|
April 1, 1978
Abbreviated PR interval in mannosidosis
J Mehta, R J Desnick
Human Mutation
|
January 1, 1993
Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification
R Kornreich, R J Desnick
Enzyme
|
January 1, 1988
Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts
G Bach, R J Desnick
British Medical Journal (Clinical Research Ed.)
|
August 24, 1985
Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland
P Mustajoki, R J Desnick
American Journal of Medical Genetics
|
January 1, 1979
Inborn errors of lysosomal catabolism--principles of heterozygote detection
R D Jolly, R J Desnick
Page
of 39
Search research articles
Search
Showing results (1-10 of 382) with videos related to
Sort By:
Page
of 39
Progress in Clinical and Biological Research
|
January 1, 1982
Gaucher disease: a century of delineation and understanding
R J Desnick
Journal of Inherited Metabolic Disease
|
June 11, 2004
Enzyme replacement and enhancement therapies for lysosomal diseases
R J Desnick
Journal of Inherited Metabolic Disease
|
June 19, 2001
Enzyme replacement and beyond
R J Desnick
The Mount Sinai Journal of Medicine, New York
|
November 1, 1982
Gaucher disease (1882-1982): centennial perspectives on the most prevalent Jewish genetic disease
R J Desnick
American Journal of Medical Genetics
|
February 25, 1998
Association of Professors of Human and Medical Genetics: summary of the third annual workshop
R J Desnick
The Journal of Pediatrics
|
April 1, 1978
Abbreviated PR interval in mannosidosis
J Mehta, R J Desnick
Human Mutation
|
January 1, 1993
Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification
R Kornreich, R J Desnick
Enzyme
|
January 1, 1988
Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts
G Bach, R J Desnick
British Medical Journal (Clinical Research Ed.)
|
August 24, 1985
Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland
P Mustajoki, R J Desnick
American Journal of Medical Genetics
|
January 1, 1979
Inborn errors of lysosomal catabolism--principles of heterozygote detection
R D Jolly, R J Desnick
Page
of 39