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P Hechtman

Showing results (31-40 of 42) with videos related to

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Genetic Epidemiology|January 1, 1992
Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic JewsM J Fernandes, F Kaplan, C L Clow, et al.
Pediatric Neurology|October 6, 2000
Variable onset of metachromatic leukodystrophy in a Vietnamese familyL T Arbour, K Silver, P Hechtman, et al.
Human Molecular Genetics|December 1, 1992
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutationM Fernandes, F Kaplan, M Natowicz, et al.
American Journal of Human Genetics|July 1, 1996
The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs diseaseY Hou, G Vavougios, A Hinek, et al.
Journal of the American Academy of Dermatology|November 1, 1993
Prolidase deficiency: a multisystemic hereditary disorderR Bissonnette, D Friedmann, J M Giroux, et al.
Human Genetics|December 1, 1992
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French CanadaP Hechtman, B Boulay, M De Braekeleer, et al.
Pediatric Neurology|January 1, 1988
Tay-Sachs disease: B1 variantB A Gordon, K E Gordon, G G Hinton, et al.
Human Mutation|January 1, 1992
Novel Tay-Sachs disease mutations from ChinaN Akalin, H P Shi, G Vavougios, et al.
Annals of Neurology|August 1, 1993
Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counselingG S Francis, A Bonni, N Shen, et al.
The Journal of Biological Chemistry|January 10, 1997
Identification of candidate active site residues in lysosomal beta-hexosaminidase AM J Fernandes, S Yew, D Leclerc, et al.
Pageof 5

Showing results (31-40 of 42) with videos related to

Sort By:
Pageof 5
Genetic Epidemiology|January 1, 1992
Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic JewsM J Fernandes, F Kaplan, C L Clow, et al.
Pediatric Neurology|October 6, 2000
Variable onset of metachromatic leukodystrophy in a Vietnamese familyL T Arbour, K Silver, P Hechtman, et al.
Human Molecular Genetics|December 1, 1992
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutationM Fernandes, F Kaplan, M Natowicz, et al.
American Journal of Human Genetics|July 1, 1996
The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs diseaseY Hou, G Vavougios, A Hinek, et al.
Journal of the American Academy of Dermatology|November 1, 1993
Prolidase deficiency: a multisystemic hereditary disorderR Bissonnette, D Friedmann, J M Giroux, et al.
Human Genetics|December 1, 1992
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French CanadaP Hechtman, B Boulay, M De Braekeleer, et al.
Pediatric Neurology|January 1, 1988
Tay-Sachs disease: B1 variantB A Gordon, K E Gordon, G G Hinton, et al.
Human Mutation|January 1, 1992
Novel Tay-Sachs disease mutations from ChinaN Akalin, H P Shi, G Vavougios, et al.
Annals of Neurology|August 1, 1993
Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counselingG S Francis, A Bonni, N Shen, et al.
The Journal of Biological Chemistry|January 10, 1997
Identification of candidate active site residues in lysosomal beta-hexosaminidase AM J Fernandes, S Yew, D Leclerc, et al.
Pageof 5