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H S Scott

Showing results (71-80 of 84) with videos related to

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Nature Genetics|December 17, 1997
Positional cloning of the APECED geneK Nagamine, P Peterson, H S Scott, et al.
The Journal of Biological Chemistry|April 5, 2000
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding proteinJ Pitkänen, V Doucas, T Sternsdorf, et al.
Genomics|August 22, 2000
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the regionA Berry, H S Scott, J Kudoh, et al.
Genomics|December 9, 2000
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiencyL Bartoloni, M Wattenhofer, J Kudoh, et al.
Human Mutation|January 15, 1999
Mutation analyses of North American APS-1 patientsM Heino, H S Scott, Q Chen, et al.
Journal of Medical Genetics|June 27, 2001
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafnessT Ben-Yosef, M Wattenhofer, S Riazuddin, et al.
Genomics|March 15, 2001
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesiaL Bartoloni, J L Blouin, A K Maiti, et al.
Leukemia|June 24, 2017
Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypesC-E Chong, P Venugopal, P H Stokes, et al.
Molecular Endocrinology (Baltimore, Md.)|August 26, 1998
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different originsH S Scott, M Heino, P Peterson, et al.
Nature Genetics|January 4, 2001
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafnessH S Scott, J Kudoh, M Wattenhofer, et al.
Pageof 9

Showing results (71-80 of 84) with videos related to

Sort By:
Pageof 9
Nature Genetics|December 17, 1997
Positional cloning of the APECED geneK Nagamine, P Peterson, H S Scott, et al.
The Journal of Biological Chemistry|April 5, 2000
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding proteinJ Pitkänen, V Doucas, T Sternsdorf, et al.
Genomics|August 22, 2000
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the regionA Berry, H S Scott, J Kudoh, et al.
Genomics|December 9, 2000
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiencyL Bartoloni, M Wattenhofer, J Kudoh, et al.
Human Mutation|January 15, 1999
Mutation analyses of North American APS-1 patientsM Heino, H S Scott, Q Chen, et al.
Journal of Medical Genetics|June 27, 2001
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafnessT Ben-Yosef, M Wattenhofer, S Riazuddin, et al.
Genomics|March 15, 2001
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesiaL Bartoloni, J L Blouin, A K Maiti, et al.
Leukemia|June 24, 2017
Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypesC-E Chong, P Venugopal, P H Stokes, et al.
Molecular Endocrinology (Baltimore, Md.)|August 26, 1998
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different originsH S Scott, M Heino, P Peterson, et al.
Nature Genetics|January 4, 2001
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafnessH S Scott, J Kudoh, M Wattenhofer, et al.
Pageof 9