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J R Lupski

Showing results (161-170 of 209) with videos related to

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Neurology|June 17, 1999
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotypeV Timmerman, P De Jonghe, C Ceuterick, et al.
American Journal of Human Genetics|January 1, 1995
The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2K S Chen, P H Gunaratne, J D Hoheisel, et al.
American Journal of Human Genetics|February 11, 1999
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndromeL Potocki, K S Chen, T Koeuth, et al.
Human Genetics|July 1, 1991
Molecular characterization of a patient with del(1)(q23-q25)B Franco, L W Lai, D Patterson, et al.
Journal of Glaucoma|December 1, 1996
A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucomaK L Anderson, R A Lewis, B A Bejjani, et al.
Human Genetics|May 1, 1996
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathyB B Roa, F Greenberg, P Gunaratne, et al.
Journal of Medical Genetics|February 6, 2004
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutationK Szigeti, L-J C Wong, C-L Perng, et al.
American Journal of Human Genetics|April 16, 1998
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi ArabiaB A Bejjani, R A Lewis, K F Tomey, et al.
Genomics|July 1, 1992
Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17pV Guzzetta, B Franco, B J Trask, et al.
Clinical Genetics|January 6, 2007
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasiaM Leipoldt, M Erdel, G A Bien-Willner, et al.
Pageof 21

Showing results (161-170 of 209) with videos related to

Sort By:
Pageof 21
Neurology|June 17, 1999
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotypeV Timmerman, P De Jonghe, C Ceuterick, et al.
American Journal of Human Genetics|January 1, 1995
The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2K S Chen, P H Gunaratne, J D Hoheisel, et al.
American Journal of Human Genetics|February 11, 1999
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndromeL Potocki, K S Chen, T Koeuth, et al.
Human Genetics|July 1, 1991
Molecular characterization of a patient with del(1)(q23-q25)B Franco, L W Lai, D Patterson, et al.
Journal of Glaucoma|December 1, 1996
A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucomaK L Anderson, R A Lewis, B A Bejjani, et al.
Human Genetics|May 1, 1996
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathyB B Roa, F Greenberg, P Gunaratne, et al.
Journal of Medical Genetics|February 6, 2004
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutationK Szigeti, L-J C Wong, C-L Perng, et al.
American Journal of Human Genetics|April 16, 1998
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi ArabiaB A Bejjani, R A Lewis, K F Tomey, et al.
Genomics|July 1, 1992
Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17pV Guzzetta, B Franco, B J Trask, et al.
Clinical Genetics|January 6, 2007
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasiaM Leipoldt, M Erdel, G A Bien-Willner, et al.
Pageof 21