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J M Vance

Showing results (51-60 of 104) with videos related to

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Australian Paediatric Journal|January 1, 1988
Systematic gene mapping in man: data management considerationsM A Pericak-Vance, W Y Hung, L Yamaoka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2001
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicingL M Messiaen, T Callens, K J Roux, et al.
Archives of Neurology|April 1, 1996
Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxiasK F Damji, R R Allingham, S C Pollock, et al.
American Journal of Human Genetics|August 1, 1993
Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD)J R Gilbert, J M Stajich, S Wall, et al.
Molecular Vision|January 5, 2001
Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in IcelandN P Liu, S Dew-Knight, M Rayner, et al.
Prenatal Diagnosis|July 1, 1988
Prenatal diagnosis using deletion studies in Duchenne muscular dystrophyM C Speer, M A Pericak-Vance, L H Yamaoka, et al.
American Journal of Medical Genetics|February 6, 1999
Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22J L Anderson, M Khan, W S David, et al.
American Journal of Human Genetics|August 1, 1992
Linkage studies in facioscapulohumeral muscular dystrophy (FSHD)J R Gilbert, J M Stajich, M C Speer, et al.
Genomics|January 25, 2000
Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15K B Othmane, E Johnson, M Menold, et al.
Human Molecular Genetics|May 23, 1998
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathyT C Pan, R Z Zhang, M A Pericak-Vance, et al.
Pageof 11

Showing results (51-60 of 104) with videos related to

Sort By:
Pageof 11
Australian Paediatric Journal|January 1, 1988
Systematic gene mapping in man: data management considerationsM A Pericak-Vance, W Y Hung, L Yamaoka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2001
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicingL M Messiaen, T Callens, K J Roux, et al.
Archives of Neurology|April 1, 1996
Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxiasK F Damji, R R Allingham, S C Pollock, et al.
American Journal of Human Genetics|August 1, 1993
Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD)J R Gilbert, J M Stajich, S Wall, et al.
Molecular Vision|January 5, 2001
Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in IcelandN P Liu, S Dew-Knight, M Rayner, et al.
Prenatal Diagnosis|July 1, 1988
Prenatal diagnosis using deletion studies in Duchenne muscular dystrophyM C Speer, M A Pericak-Vance, L H Yamaoka, et al.
American Journal of Medical Genetics|February 6, 1999
Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22J L Anderson, M Khan, W S David, et al.
American Journal of Human Genetics|August 1, 1992
Linkage studies in facioscapulohumeral muscular dystrophy (FSHD)J R Gilbert, J M Stajich, M C Speer, et al.
Genomics|January 25, 2000
Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15K B Othmane, E Johnson, M Menold, et al.
Human Molecular Genetics|May 23, 1998
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathyT C Pan, R Z Zhang, M A Pericak-Vance, et al.
Pageof 11