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J L Mandel

Showing results (151-160 of 257) with videos related to

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American Journal of Human Genetics|June 1, 1996
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophyV Feigenbaum, G Lombard-Platet, S Guidoux, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 1, 1984
Genetic mapping of the human X chromosome by using restriction fragment length polymorphismsD Drayna, K Davies, D Hartley, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 8, 1997
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutationsM Cossée, M Schmitt, V Campuzano, et al.
American Journal of Human Genetics|February 1, 1988
Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B familiesB Arveiler, I Oberlé, A Vincent, et al.
The EMBO Journal|July 1, 1985
Extensive DNA sequence homologies between the human Y and the long arm of the X chromosomeD Geldwerth, C Bishop, G Guellaën, et al.
American Journal of Human Genetics|June 1, 1997
A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathyC Guiraud-Chaumeil, M C Vincent, J Laporte, et al.
Human Molecular Genetics|August 7, 2001
SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell typesG Yvert, K S Lindenberg, D Devys, et al.
Human Genetics|September 1, 1987
Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27I Oberlé, G Camerino, K Wrogemann, et al.
Lancet (London, England)|May 5, 1990
Prenatal diagnosis of Friedreich ataxiaA Hanauer, R Fujita, P Trouillas, et al.
American Journal of Medical Genetics|April 1, 1992
Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic associationI Oberlé, J Boué, M F Croquette, et al.
Pageof 26

Showing results (151-160 of 257) with videos related to

Sort By:
Pageof 26
American Journal of Human Genetics|June 1, 1996
Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophyV Feigenbaum, G Lombard-Platet, S Guidoux, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 1, 1984
Genetic mapping of the human X chromosome by using restriction fragment length polymorphismsD Drayna, K Davies, D Hartley, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 8, 1997
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutationsM Cossée, M Schmitt, V Campuzano, et al.
American Journal of Human Genetics|February 1, 1988
Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B familiesB Arveiler, I Oberlé, A Vincent, et al.
The EMBO Journal|July 1, 1985
Extensive DNA sequence homologies between the human Y and the long arm of the X chromosomeD Geldwerth, C Bishop, G Guellaën, et al.
American Journal of Human Genetics|June 1, 1997
A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathyC Guiraud-Chaumeil, M C Vincent, J Laporte, et al.
Human Molecular Genetics|August 7, 2001
SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell typesG Yvert, K S Lindenberg, D Devys, et al.
Human Genetics|September 1, 1987
Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27I Oberlé, G Camerino, K Wrogemann, et al.
Lancet (London, England)|May 5, 1990
Prenatal diagnosis of Friedreich ataxiaA Hanauer, R Fujita, P Trouillas, et al.
American Journal of Medical Genetics|April 1, 1992
Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic associationI Oberlé, J Boué, M F Croquette, et al.
Pageof 26