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J E SPENCE

Showing results (41-50 of 51) with videos related to

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American Journal of Human Genetics|October 1, 1992
Minimum qualifications for directors: DNA-based genetic-testing laboratories. DNA Testing Subcommittee, Quality Assurance Committee, Council of Regional Networks for Genetic ServicesP Murphy, J Amos, N Carpenter, et al.
American Journal of Medical Genetics|November 1, 1993
Tetrasomy 9p: tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and reviewF S Grass, J C Parke, H N Kirkman, et al.
American Journal of Human Genetics|December 1, 1986
Linkage of DNA markers to cystic fibrosis in 26 familiesJ E Spence, C L Rosenbloom, W E O'Brien, et al.
American Journal of Medical Genetics|August 22, 2000
Novel ring chromosome composed of X- and Y-derived material in a girl with manifestations of Ullrich-Turner syndromeF S Grass, C A Brown, P F Backeljauw, et al.
Human Genetics|May 1, 1987
Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysisJ E Spence, G J Buffone, C L Rosenbloom, et al.
American Journal of Human Genetics|February 1, 1988
Uniparental disomy as a mechanism for human genetic diseaseJ E Spence, R G Perciaccante, G M Greig, et al.
Clinical Genetics|November 17, 2007
Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autismS S Bhat, S Ladd, F Grass, et al.
Molecular Syndromology|November 1, 2012
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 MicrodeletionsR N Traylor, W B Dobyns, J A Rosenfeld, et al.
American Journal of Medical Genetics|August 15, 2001
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophyC A Brown, R W Lanning, K Q McKinney, et al.
Journal of Medical Genetics|March 18, 2009
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disordersS Ben-Shachar, B Lanpher, J R German, et al.
Pageof 6

Showing results (41-50 of 51) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|October 1, 1992
Minimum qualifications for directors: DNA-based genetic-testing laboratories. DNA Testing Subcommittee, Quality Assurance Committee, Council of Regional Networks for Genetic ServicesP Murphy, J Amos, N Carpenter, et al.
American Journal of Medical Genetics|November 1, 1993
Tetrasomy 9p: tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and reviewF S Grass, J C Parke, H N Kirkman, et al.
American Journal of Human Genetics|December 1, 1986
Linkage of DNA markers to cystic fibrosis in 26 familiesJ E Spence, C L Rosenbloom, W E O'Brien, et al.
American Journal of Medical Genetics|August 22, 2000
Novel ring chromosome composed of X- and Y-derived material in a girl with manifestations of Ullrich-Turner syndromeF S Grass, C A Brown, P F Backeljauw, et al.
Human Genetics|May 1, 1987
Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysisJ E Spence, G J Buffone, C L Rosenbloom, et al.
American Journal of Human Genetics|February 1, 1988
Uniparental disomy as a mechanism for human genetic diseaseJ E Spence, R G Perciaccante, G M Greig, et al.
Clinical Genetics|November 17, 2007
Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autismS S Bhat, S Ladd, F Grass, et al.
Molecular Syndromology|November 1, 2012
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 MicrodeletionsR N Traylor, W B Dobyns, J A Rosenfeld, et al.
American Journal of Medical Genetics|August 15, 2001
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophyC A Brown, R W Lanning, K Q McKinney, et al.
Journal of Medical Genetics|March 18, 2009
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disordersS Ben-Shachar, B Lanpher, J R German, et al.
Pageof 6