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J N MacPherson

Showing results (21-30 of 32) with videos related to

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Clinical Endocrinology|June 1, 1979
Plasma cyclic-AMP response to parathyroid hormone in Turner's syndrome and Albright's hereditary osteodystrophyJ P Ashby, W B Renton, J N MacPherson, et al.
Human Molecular Genetics|December 1, 1995
Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptionsE E Eichler, H A Hammond, J N Macpherson, et al.
Human Molecular Genetics|March 1, 1996
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndromeE E Eichler, J N Macpherson, A Murray, et al.
American Journal of Human Genetics|January 1, 1997
Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotypeT C Falik-Zaccai, E Shachak, M Yalon, et al.
American Journal of Medical Genetics|June 27, 2000
Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X allelesL A Larsen, J S Armstrong, K Grønskov, et al.
Journal of Medical Genetics|March 1, 1995
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndromeJ N Macpherson, G Curtis, J A Crolla, et al.
Journal of Medical Genetics|February 1, 1993
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardationG A Flynn, M C Hirst, S J Knight, et al.
Human Molecular Genetics|February 1, 1997
The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmissionA Murray, J N Macpherson, M C Pound, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Stability and haplotype analysis of the FRAXE regionA Murray, S Ennis, S A Youings, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 22, 1998
FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disabilityJ W Teague, N E Morton, N R Dennis, et al.
Pageof 4

Showing results (21-30 of 32) with videos related to

Sort By:
Pageof 4
Clinical Endocrinology|June 1, 1979
Plasma cyclic-AMP response to parathyroid hormone in Turner's syndrome and Albright's hereditary osteodystrophyJ P Ashby, W B Renton, J N MacPherson, et al.
Human Molecular Genetics|December 1, 1995
Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptionsE E Eichler, H A Hammond, J N Macpherson, et al.
Human Molecular Genetics|March 1, 1996
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndromeE E Eichler, J N Macpherson, A Murray, et al.
American Journal of Human Genetics|January 1, 1997
Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotypeT C Falik-Zaccai, E Shachak, M Yalon, et al.
American Journal of Medical Genetics|June 27, 2000
Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X allelesL A Larsen, J S Armstrong, K Grønskov, et al.
Journal of Medical Genetics|March 1, 1995
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndromeJ N Macpherson, G Curtis, J A Crolla, et al.
Journal of Medical Genetics|February 1, 1993
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardationG A Flynn, M C Hirst, S J Knight, et al.
Human Molecular Genetics|February 1, 1997
The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmissionA Murray, J N Macpherson, M C Pound, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Stability and haplotype analysis of the FRAXE regionA Murray, S Ennis, S A Youings, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 22, 1998
FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disabilityJ W Teague, N E Morton, N R Dennis, et al.
Pageof 4