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M R Natowicz

Showing results (41-50 of 53) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|May 26, 1999
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IXB Triggs-Raine, T J Salo, H Zhang, et al.
Journal of Medical Genetics|October 1, 1996
Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great BritainM van Bael, M R Natowicz, J Tomczak, et al.
Neurology|September 13, 2006
Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatmentB E Shapiro, S Hatters-Friedman, J A Fernandes-Filho, et al.
American Journal of Human Genetics|May 1, 1997
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs diseaseB R Akerman, M R Natowicz, M M Kaback, et al.
Journal of Public Health Policy|January 1, 1994
Genetic discrimination and screening for hemochromatosisJ S Alper, L N Geller, C I Barash, et al.
American Journal of Human Genetics|March 1, 1992
Discrimination as a consequence of genetic testingP R Billings, M A Kohn, M de Cuevas, et al.
American Journal of Medical Genetics|May 17, 1996
Urinary bile acids and peroxisomal bifunctional enzyme deficiencyM R Natowicz, J E Evans, R I Kelley, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 14, 1998
A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease?D K Simon, M L Rodriguez, M P Frosch, et al.
Acta Neuropathologica|January 1, 1992
Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studiesJ Alroy, S H Schelling, J G Thalhammer, et al.
American Journal of Human Genetics|December 1, 1993
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimationZ Cao, M R Natowicz, M M Kaback, et al.
Pageof 6

Showing results (41-50 of 53) with videos related to

Sort By:
Pageof 6
Proceedings of the National Academy of Sciences of the United States of America|May 26, 1999
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IXB Triggs-Raine, T J Salo, H Zhang, et al.
Journal of Medical Genetics|October 1, 1996
Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great BritainM van Bael, M R Natowicz, J Tomczak, et al.
Neurology|September 13, 2006
Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatmentB E Shapiro, S Hatters-Friedman, J A Fernandes-Filho, et al.
American Journal of Human Genetics|May 1, 1997
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs diseaseB R Akerman, M R Natowicz, M M Kaback, et al.
Journal of Public Health Policy|January 1, 1994
Genetic discrimination and screening for hemochromatosisJ S Alper, L N Geller, C I Barash, et al.
American Journal of Human Genetics|March 1, 1992
Discrimination as a consequence of genetic testingP R Billings, M A Kohn, M de Cuevas, et al.
American Journal of Medical Genetics|May 17, 1996
Urinary bile acids and peroxisomal bifunctional enzyme deficiencyM R Natowicz, J E Evans, R I Kelley, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 14, 1998
A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease?D K Simon, M L Rodriguez, M P Frosch, et al.
Acta Neuropathologica|January 1, 1992
Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studiesJ Alroy, S H Schelling, J G Thalhammer, et al.
American Journal of Human Genetics|December 1, 1993
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimationZ Cao, M R Natowicz, M M Kaback, et al.
Pageof 6