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H Northrup

Showing results (51-60 of 68) with videos related to

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American Journal of Medical Genetics|July 13, 2002
Testing for genetic associations with the PAX gene family in a spina bifida populationK A Volcik, S H Blanton, M C Kruzel, et al.
Human Mutation|November 26, 1998
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosisR L Beauchamp, A Banwell, P McNamara, et al.
Journal of Medical Genetics|May 4, 2004
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactylyP A Gupta, D D Wallis, T O Chin, et al.
Journal of Medical Genetics|June 14, 2001
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complexL Khare, G D Strizheva, J N Bailey, et al.
American Journal of Human Genetics|April 16, 1998
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patientsK S Au, J A Rodriguez, J L Finch, et al.
American Journal of Medical Genetics|November 14, 2000
Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in HispanicsK A Volcik, S H Blanton, G H Tyerman, et al.
Genomics|February 10, 1995
COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type IID S Greenspan, H Northrup, K S Au, et al.
Genomics|September 1, 1995
A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)J Hou, J Parrish, H J Lüdecke, et al.
American Journal of Human Genetics|October 27, 1997
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndromeS K Shapira, C McCaskill, H Northrup, et al.
Biochemistry|July 6, 1993
Effects of charged amino acid mutations on the bimolecular kinetics of reduction of yeast iso-1-ferricytochrome c by bovine ferrocytochrome b5S H Northrup, K A Thomasson, C M Miller, et al.
Pageof 7

Showing results (51-60 of 68) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics|July 13, 2002
Testing for genetic associations with the PAX gene family in a spina bifida populationK A Volcik, S H Blanton, M C Kruzel, et al.
Human Mutation|November 26, 1998
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosisR L Beauchamp, A Banwell, P McNamara, et al.
Journal of Medical Genetics|May 4, 2004
FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactylyP A Gupta, D D Wallis, T O Chin, et al.
Journal of Medical Genetics|June 14, 2001
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complexL Khare, G D Strizheva, J N Bailey, et al.
American Journal of Human Genetics|April 16, 1998
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patientsK S Au, J A Rodriguez, J L Finch, et al.
American Journal of Medical Genetics|November 14, 2000
Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in HispanicsK A Volcik, S H Blanton, G H Tyerman, et al.
Genomics|February 10, 1995
COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type IID S Greenspan, H Northrup, K S Au, et al.
Genomics|September 1, 1995
A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)J Hou, J Parrish, H J Lüdecke, et al.
American Journal of Human Genetics|October 27, 1997
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndromeS K Shapira, C McCaskill, H Northrup, et al.
Biochemistry|July 6, 1993
Effects of charged amino acid mutations on the bimolecular kinetics of reduction of yeast iso-1-ferricytochrome c by bovine ferrocytochrome b5S H Northrup, K A Thomasson, C M Miller, et al.
Pageof 7