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Proceedings of the National Academy of Sciences of the United States of America
|
August 1, 1981
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells
B R Migeon, H W Moser, A B Moser, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition
|
February 24, 2000
Type 2 Gaucher disease: the collodion baby phenotype revisited
D L Stone, W F Carey, J Christodoulou, et al.
American Journal of Human Genetics
|
June 13, 1998
Gene localization for an autosomal dominant familial periodic fever to 12p13
J Mulley, K Saar, G Hewitt, et al.
Nature Genetics
|
August 4, 1999
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
A K Gedeon, A Colley, R Jamieson, 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.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
September 1, 1994
Bone mineral density of total body, spine, and femoral neck in children and young adults: a cross-sectional and longitudinal study
P W Lu, J N Briody, G D Ogle, et al.
American Journal of Human Genetics
|
December 31, 2005
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype
D B Sparrow, G Chapman, M A Wouters, et al.
Human Genetics
|
February 1, 1995
Genetic homogeneity of cartilage-hair hypoplasia
T Sulisalo, I van der Burgt, D L Rimoin, et al.
Journal of Medical Genetics
|
January 14, 2000
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
W Reardon, A Smith, J W Honour, et al.
Human Molecular Genetics
|
February 1, 1997
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses
S S Chong, E Almqvist, H Telenius, et al.
Page
of 6
Search research articles
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Showing results (41-50 of 52) with videos related to
Sort By:
Page
of 6
Proceedings of the National Academy of Sciences of the United States of America
|
August 1, 1981
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells
B R Migeon, H W Moser, A B Moser, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition
|
February 24, 2000
Type 2 Gaucher disease: the collodion baby phenotype revisited
D L Stone, W F Carey, J Christodoulou, et al.
American Journal of Human Genetics
|
June 13, 1998
Gene localization for an autosomal dominant familial periodic fever to 12p13
J Mulley, K Saar, G Hewitt, et al.
Nature Genetics
|
August 4, 1999
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
A K Gedeon, A Colley, R Jamieson, 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.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
September 1, 1994
Bone mineral density of total body, spine, and femoral neck in children and young adults: a cross-sectional and longitudinal study
P W Lu, J N Briody, G D Ogle, et al.
American Journal of Human Genetics
|
December 31, 2005
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype
D B Sparrow, G Chapman, M A Wouters, et al.
Human Genetics
|
February 1, 1995
Genetic homogeneity of cartilage-hair hypoplasia
T Sulisalo, I van der Burgt, D L Rimoin, et al.
Journal of Medical Genetics
|
January 14, 2000
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
W Reardon, A Smith, J W Honour, et al.
Human Molecular Genetics
|
February 1, 1997
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses
S S Chong, E Almqvist, H Telenius, et al.
Page
of 6