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Human Genetics|January 1, 1985
First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probeJ Boué, I Oberle, R Heilig, et al.American Journal of Medical Genetics|May 1, 1988
Linkage analysis suggests at least two loci for X-linked non-specific mental retardationB Arveiler, Y Alembik, A Hanauer, et al.Science (New York, N.Y.)|May 24, 1991
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndromeI Oberlé, F Rousseau, D Heitz, et al.American Journal of Medical Genetics|May 1, 1988
Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysisA Hanauer, Y Alembik, S Gilgenkrantz, et al.Lancet (London, England)|May 6, 1995
Rapid antibody test for fragile X syndromeR Willemsen, S Mohkamsing, B de Vries, et al.Nature|December 12, 1996
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndromeE Trivier, D De Cesare, S Jacquot, et al.Proceedings of the National Academy of Sciences of the United States of America|January 1, 1984
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus)G Camerino, K H Grzeschik, M Jaye, et al.European Journal of Human Genetics : EJHG|October 22, 1998
Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathyJ Laporte, C Guiraud-Chaumeil, S M Tanner, et al.American Journal of Medical Genetics|April 1, 1992
Methylation and mutation patterns in the fragile X syndromeH Malmgren, M L Steén-Bondeson, K H Gustavson, et al.Nature Genetics|May 1, 1995
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated formY Trottier, D Devys, G Imbert, et al.Pageof 20