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J R Lupski

Showing results (131-140 of 209) with videos related to

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Nature Genetics|November 5, 1997
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndromeK S Chen, P Manian, T Koeuth, et al.
Annals of Neurology|November 25, 2004
Increased blood-brain barrier permeability with thymidine phosphorylase deficiencyK Szigeti, N Sule, A M Adesina, et al.
Clinical Genetics|July 17, 2001
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1N Katsanis, N F Shroyer, R A Lewis, et al.
Clinical Genetics|February 25, 2009
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?S Ben-Shachar, M Khajavi, M A Withers, et al.
Journal of Bacteriology|October 1, 1990
Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reactionJ R Lupski, Y H Zhang, M Rieger, et al.
Human Genetics|November 3, 1998
A novel locus for Leber congenital amaurosis on chromosome 14q24D W Stockton, R A Lewis, E B Abboud, et al.
American Journal of Human Genetics|April 1, 1990
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17P I Patel, B Franco, C Garcia, et al.
Prenatal Diagnosis|January 12, 2002
Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher diseaseK Inoue, M Kanai, Y Tanabe, et al.
Archives of Neurology|October 27, 2001
Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndromeD W Stockton, R A Meade, D T Netscher, et al.
American Journal of Human Genetics|May 1, 1996
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patientsR C Juyal, L E Figuera, X Hauge, et al.
Pageof 21

Showing results (131-140 of 209) with videos related to

Sort By:
Pageof 21
Nature Genetics|November 5, 1997
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndromeK S Chen, P Manian, T Koeuth, et al.
Annals of Neurology|November 25, 2004
Increased blood-brain barrier permeability with thymidine phosphorylase deficiencyK Szigeti, N Sule, A M Adesina, et al.
Clinical Genetics|July 17, 2001
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1N Katsanis, N F Shroyer, R A Lewis, et al.
Clinical Genetics|February 25, 2009
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?S Ben-Shachar, M Khajavi, M A Withers, et al.
Journal of Bacteriology|October 1, 1990
Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reactionJ R Lupski, Y H Zhang, M Rieger, et al.
Human Genetics|November 3, 1998
A novel locus for Leber congenital amaurosis on chromosome 14q24D W Stockton, R A Lewis, E B Abboud, et al.
American Journal of Human Genetics|April 1, 1990
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17P I Patel, B Franco, C Garcia, et al.
Prenatal Diagnosis|January 12, 2002
Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher diseaseK Inoue, M Kanai, Y Tanabe, et al.
Archives of Neurology|October 27, 2001
Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndromeD W Stockton, R A Meade, D T Netscher, et al.
American Journal of Human Genetics|May 1, 1996
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patientsR C Juyal, L E Figuera, X Hauge, et al.
Pageof 21