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Clinical Genetics
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April 22, 2004
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis
M B Delatycki, K J Allen, P Gow, et al.
Nature Genetics
|
October 1, 1993
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects
Y P Goldberg, B Kremer, S E Andrew, et al.
Human Molecular Genetics
|
October 1, 1995
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
Y P Goldberg, C T McMurray, J Zeisler, et al.
Nature Genetics
|
April 1, 1994
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
H Telenius, B Kremer, Y P Goldberg, et al.
Human Genetics
|
October 1, 1996
Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations
K Steyn, Y P Goldberg, M J Kotze, et al.
Human Molecular Genetics
|
July 1, 1993
A transcription map of the region containing the Huntington disease gene
J M Rommens, B Lin, G B Hutchinson, et al.
Nature
|
March 25, 1993
Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease
Y P Goldberg, J M Rommens, S E Andrew, et al.
Human Molecular Genetics
|
December 1, 1992
Cloning and mapping of the alpha-adducin gene close to D4S95 and assessment of its relationship to Huntington disease
Y P Goldberg, B Y Lin, S E Andrew, et al.
The Journal of Biological Chemistry
|
August 9, 1996
Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme
M A Kalchman, R K Graham, G Xia, et al.
Human Molecular Genetics
|
February 1, 1996
Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript
Y P Goldberg, M A Kalchman, M Metzler, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 34) with videos related to
Sort By:
Page
of 4
Clinical Genetics
|
April 22, 2004
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis
M B Delatycki, K J Allen, P Gow, et al.
Nature Genetics
|
October 1, 1993
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects
Y P Goldberg, B Kremer, S E Andrew, et al.
Human Molecular Genetics
|
October 1, 1995
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
Y P Goldberg, C T McMurray, J Zeisler, et al.
Nature Genetics
|
April 1, 1994
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
H Telenius, B Kremer, Y P Goldberg, et al.
Human Genetics
|
October 1, 1996
Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations
K Steyn, Y P Goldberg, M J Kotze, et al.
Human Molecular Genetics
|
July 1, 1993
A transcription map of the region containing the Huntington disease gene
J M Rommens, B Lin, G B Hutchinson, et al.
Nature
|
March 25, 1993
Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease
Y P Goldberg, J M Rommens, S E Andrew, et al.
Human Molecular Genetics
|
December 1, 1992
Cloning and mapping of the alpha-adducin gene close to D4S95 and assessment of its relationship to Huntington disease
Y P Goldberg, B Y Lin, S E Andrew, et al.
The Journal of Biological Chemistry
|
August 9, 1996
Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme
M A Kalchman, R K Graham, G Xia, et al.
Human Molecular Genetics
|
February 1, 1996
Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript
Y P Goldberg, M A Kalchman, M Metzler, et al.
Page
of 4