R J Desnick|S R Thorpe|M B Fiddler - JoVE Visualize

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Human Genetics|August 1, 1996

Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genesB D Gelb, E Spencer, S Obad, et al.

Pharmacology & Toxicology|November 14, 1997

Lead binding to delta-aminolevulinic acid dehydratase (ALAD) in human erythrocytesI A Bergdahl, A Grubb, A Schütz, et al.

American Journal of Medical Genetics|August 22, 1997

Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19P D Cotter, L D McCurdy, I F Gershin, et al.

American Journal of Medical Genetics|June 9, 1999

Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)P Ashton-Prolla, G A Ashley, R Giugliani, et al.

Genomics|October 10, 1995

Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutationT Kunieda, C M Simonaro, M Yoshida, et al.

Clinical Genetics|March 31, 1998

Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X)S R Manea, I F Gershin, A Babu, et al.

American Journal of Medical Genetics|June 22, 2000

Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi familyA Al Aqeel, W Al Sewairi, B Edress, et al.

American Journal of Nephrology|September 1, 1983

Silicon nephropathy mimicking Fabry's diseaseD E Banks, J Milutinovic, R J Desnick, et al.

Enzyme|January 1, 1988

Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sitesK Osiecki-Newman, G Legler, M Grace, et al.

Genomics|October 1, 1992

Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1C E Jackson, N Yuhki, R J Desnick, et al.

Pageof 40

Showing results (251-260 of 399) with videos related to

Sort By:

Pageof 40

Human Genetics|August 1, 1996

Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genesB D Gelb, E Spencer, S Obad, et al.

Pharmacology & Toxicology|November 14, 1997

Lead binding to delta-aminolevulinic acid dehydratase (ALAD) in human erythrocytesI A Bergdahl, A Grubb, A Schütz, et al.

American Journal of Medical Genetics|August 22, 1997

Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19P D Cotter, L D McCurdy, I F Gershin, et al.

American Journal of Medical Genetics|June 9, 1999

Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)P Ashton-Prolla, G A Ashley, R Giugliani, et al.

Genomics|October 10, 1995

Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutationT Kunieda, C M Simonaro, M Yoshida, et al.

Clinical Genetics|March 31, 1998

Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X)S R Manea, I F Gershin, A Babu, et al.

American Journal of Medical Genetics|June 22, 2000

Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi familyA Al Aqeel, W Al Sewairi, B Edress, et al.

American Journal of Nephrology|September 1, 1983

Silicon nephropathy mimicking Fabry's diseaseD E Banks, J Milutinovic, R J Desnick, et al.

Enzyme|January 1, 1988

Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sitesK Osiecki-Newman, G Legler, M Grace, et al.

Genomics|October 1, 1992

Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1C E Jackson, N Yuhki, R J Desnick, et al.

Pageof 40