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J R Lupski

Showing results (121-130 of 209) with videos related to

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Nature Genetics|April 16, 1998
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathiesL E Warner, P Mancias, I J Butler, et al.
Muscle & Nerve|January 20, 2000
Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth diseaseA Gutierrez, J D England, A J Sumner, et al.
Human Mutation|January 1, 1996
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth diseaseB B Roa, L E Warner, C A Garcia, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|January 1, 1995
Molecular epidemiology of infections due to Enterobacter aerogenes: identification of hospital outbreak-associated strains by molecular techniquesP R Georghiou, R J Hamill, C E Wright, et al.
American Journal of Human Genetics|October 1, 1993
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplicationC A Wise, C A Garcia, S N Davis, et al.
Genomics|May 15, 1997
Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGLH D Campbell, S Fountain, I G Young, et al.
Journal of Autism and Developmental Disorders|March 5, 2013
Brief report: regression timing and associated features in MECP2 duplication syndromeS U Peters, R J Hundley, A K Wilson, et al.
Journal of Medical Genetics|February 6, 2004
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disordersC J Shaw, C A Shaw, W Yu, et al.
Clinical Genetics|June 2, 2007
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 casesE A Edelman, S Girirajan, B Finucane, et al.
American Journal of Human Genetics|January 1, 1995
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsiesD Lorenzetti, D Pareyson, A Sghirlanzoni, et al.
Pageof 21

Showing results (121-130 of 209) with videos related to

Sort By:
Pageof 21
Nature Genetics|April 16, 1998
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathiesL E Warner, P Mancias, I J Butler, et al.
Muscle & Nerve|January 20, 2000
Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth diseaseA Gutierrez, J D England, A J Sumner, et al.
Human Mutation|January 1, 1996
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth diseaseB B Roa, L E Warner, C A Garcia, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|January 1, 1995
Molecular epidemiology of infections due to Enterobacter aerogenes: identification of hospital outbreak-associated strains by molecular techniquesP R Georghiou, R J Hamill, C E Wright, et al.
American Journal of Human Genetics|October 1, 1993
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplicationC A Wise, C A Garcia, S N Davis, et al.
Genomics|May 15, 1997
Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGLH D Campbell, S Fountain, I G Young, et al.
Journal of Autism and Developmental Disorders|March 5, 2013
Brief report: regression timing and associated features in MECP2 duplication syndromeS U Peters, R J Hundley, A K Wilson, et al.
Journal of Medical Genetics|February 6, 2004
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disordersC J Shaw, C A Shaw, W Yu, et al.
Clinical Genetics|June 2, 2007
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 casesE A Edelman, S Girirajan, B Finucane, et al.
American Journal of Human Genetics|January 1, 1995
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsiesD Lorenzetti, D Pareyson, A Sghirlanzoni, et al.
Pageof 21