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H S Scott

Showing results (41-50 of 84) with videos related to

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Mammalian Genome : Official Journal of the International Mammalian Genome Society|January 1, 1992
Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomesT Koizumi, M MacDonald, M Búcan, et al.
Human Molecular Genetics|August 1, 2000
Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndromeR Chrast, H S Scott, R Madani, et al.
Leukemia|October 5, 2007
Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patientsC M Butcher, U Hahn, L B To, et al.
Nature Genetics|December 1, 1995
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndromeH S Scott, L Blanch, X H Guo, et al.
American Journal of Human Genetics|December 5, 1998
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneityH Mehenni, C Gehrig, J Nezu, et al.
Journal of Inherited Metabolic Disease|January 14, 1998
Mutations among Italian mucopolysaccharidosis type I patientsR Gatti, P DiNatale, G R Villani, et al.
Human Genetics|December 22, 1999
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)E Roessler, L Mittaz, Y Du, et al.
Human Molecular Genetics|June 1, 1994
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patientsS Bunge, W J Kleijer, C Steglich, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotypeJ J Hopwood, A Vellodi, H S Scott, et al.
Genomics|February 18, 1998
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysisH S Scott, D S Kyriakou, P Peterson, et al.
Pageof 9

Showing results (41-50 of 84) with videos related to

Sort By:
Pageof 9
Mammalian Genome : Official Journal of the International Mammalian Genome Society|January 1, 1992
Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomesT Koizumi, M MacDonald, M Búcan, et al.
Human Molecular Genetics|August 1, 2000
Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndromeR Chrast, H S Scott, R Madani, et al.
Leukemia|October 5, 2007
Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patientsC M Butcher, U Hahn, L B To, et al.
Nature Genetics|December 1, 1995
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndromeH S Scott, L Blanch, X H Guo, et al.
American Journal of Human Genetics|December 5, 1998
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneityH Mehenni, C Gehrig, J Nezu, et al.
Journal of Inherited Metabolic Disease|January 14, 1998
Mutations among Italian mucopolysaccharidosis type I patientsR Gatti, P DiNatale, G R Villani, et al.
Human Genetics|December 22, 1999
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)E Roessler, L Mittaz, Y Du, et al.
Human Molecular Genetics|June 1, 1994
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patientsS Bunge, W J Kleijer, C Steglich, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotypeJ J Hopwood, A Vellodi, H S Scott, et al.
Genomics|February 18, 1998
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysisH S Scott, D S Kyriakou, P Peterson, et al.
Pageof 9