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M R Natowicz

Showing results (31-40 of 53) with videos related to

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European Journal of Pediatrics|August 1, 1997
Case of the month. A 3.5-year-old female with developmental delays, hepatomegaly, and coarse faciesS Yano, R E Falk, M R Natowicz, et al.
Clinical Chemistry|February 1, 1996
Urine sulfatides and the diagnosis of metachromatic leukodystrophyM R Natowicz, E M Prence, P Chaturvedi, et al.
Biological Mass Spectrometry|June 1, 1993
Screening techniques for the detection of inborn errors of bile acid metabolism by direct injection and micro-high performance liquid chromatography-continuous flow/fast atom bombardment mass spectrometryJ E Evans, A Ghosh, B A Evans, et al.
Journal of Medical Genetics|May 6, 2008
Double outlet right ventricle: aetiologies and associationsD Obler, A L Juraszek, L B Smoot, et al.
Annals of Neurology|December 1, 1994
Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studiesE M Kaye, R F Doll, M R Natowicz, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 1, 1979
Enzymatic identification of mannose 6-phosphate on the recognition marker for receptor-mediated pinocytosis of beta-glucuronidase by human fibroblastsM R Natowicz, M M Chi, O H Lowry, et al.
American Journal of Human Genetics|April 1, 1995
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New EnglandB Triggs-Raine, M Richard, N Wasel, et al.
American Journal of Medical Genetics|January 31, 1997
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolismC Cunniff, L E Kratz, A Moser, et al.
Journal of Medical Screening|January 1, 1997
Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian backgroundE M Prence, C A Jerome, B L Triggs-Raine, et al.
Annals of the New York Academy of Sciences|December 27, 1996
Identification of glucuronide-conjugated hydroxylated fatty acids in the urine of children with generalized peroxisomal disorderJ M Street, J E Evans, M R Natowicz, et al.
Pageof 6

Showing results (31-40 of 53) with videos related to

Sort By:
Pageof 6
European Journal of Pediatrics|August 1, 1997
Case of the month. A 3.5-year-old female with developmental delays, hepatomegaly, and coarse faciesS Yano, R E Falk, M R Natowicz, et al.
Clinical Chemistry|February 1, 1996
Urine sulfatides and the diagnosis of metachromatic leukodystrophyM R Natowicz, E M Prence, P Chaturvedi, et al.
Biological Mass Spectrometry|June 1, 1993
Screening techniques for the detection of inborn errors of bile acid metabolism by direct injection and micro-high performance liquid chromatography-continuous flow/fast atom bombardment mass spectrometryJ E Evans, A Ghosh, B A Evans, et al.
Journal of Medical Genetics|May 6, 2008
Double outlet right ventricle: aetiologies and associationsD Obler, A L Juraszek, L B Smoot, et al.
Annals of Neurology|December 1, 1994
Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studiesE M Kaye, R F Doll, M R Natowicz, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 1, 1979
Enzymatic identification of mannose 6-phosphate on the recognition marker for receptor-mediated pinocytosis of beta-glucuronidase by human fibroblastsM R Natowicz, M M Chi, O H Lowry, et al.
American Journal of Human Genetics|April 1, 1995
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New EnglandB Triggs-Raine, M Richard, N Wasel, et al.
American Journal of Medical Genetics|January 31, 1997
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolismC Cunniff, L E Kratz, A Moser, et al.
Journal of Medical Screening|January 1, 1997
Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian backgroundE M Prence, C A Jerome, B L Triggs-Raine, et al.
Annals of the New York Academy of Sciences|December 27, 1996
Identification of glucuronide-conjugated hydroxylated fatty acids in the urine of children with generalized peroxisomal disorderJ M Street, J E Evans, M R Natowicz, et al.
Pageof 6