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S Minoshima

Showing results (251-260 of 265) with videos related to

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Genomics|August 22, 2000
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat proteinJ Michaud, J Kudoh, A Berry, et al.
Genomics|April 11, 2000
The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndromeM A Riazi, P Brinkman-Mills, T Nguyen, et al.
Human Genetics|April 3, 2001
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domainsM Wattenhofer, K Shibuya, J Kudoh, et al.
Human Genetics|September 16, 1998
Molecular and clinical study of 183 patients with conotruncal anomaly face syndromeR Matsuoka, M Kimura, P J Scambler, et al.
Nature Genetics|December 17, 1997
Positional cloning of the APECED geneK Nagamine, P Peterson, H S Scott, 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.
Genome Research|January 13, 2001
A SNP resource for human chromosome 22: extracting dense clusters of SNPs from the genomic sequenceE Dawson, Y Chen, S Hunt, 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 Genetics|December 6, 2001
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiencyX Yang, Y Aoki, X Li, 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 27

Showing results (251-260 of 265) with videos related to

Sort By:
Pageof 27
Genomics|August 22, 2000
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat proteinJ Michaud, J Kudoh, A Berry, et al.
Genomics|April 11, 2000
The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndromeM A Riazi, P Brinkman-Mills, T Nguyen, et al.
Human Genetics|April 3, 2001
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domainsM Wattenhofer, K Shibuya, J Kudoh, et al.
Human Genetics|September 16, 1998
Molecular and clinical study of 183 patients with conotruncal anomaly face syndromeR Matsuoka, M Kimura, P J Scambler, et al.
Nature Genetics|December 17, 1997
Positional cloning of the APECED geneK Nagamine, P Peterson, H S Scott, 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.
Genome Research|January 13, 2001
A SNP resource for human chromosome 22: extracting dense clusters of SNPs from the genomic sequenceE Dawson, Y Chen, S Hunt, 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 Genetics|December 6, 2001
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiencyX Yang, Y Aoki, X Li, 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 27