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Human Genetics
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September 10, 1999
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype
M A Maxwell, P V Nelson, S J Chin, et al.
Human Genetics
|
September 10, 1999
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer
Q Wang, C Lasset, F Desseigne, et al.
Human Genetics
|
September 10, 1999
Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines
P R Prince, C E Ogburn, M J Moser, et al.
Human Genetics
|
September 10, 1999
The frequency of lysosomal storage diseases in The Netherlands
B J Poorthuis, R A Wevers, W J Kleijer, et al.
Human Genetics
|
September 10, 1999
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin
V Berry, D Mackay, S Khaliq, et al.
Human Genetics
|
September 10, 1999
Association between M/L55-polymorphism of paraoxonase enzyme and oxidative DNA damage in patients with type 2 diabetes mellitus and in control subjects
R Malin, V Rantalaiho, X H Huang, et al.
Human Genetics
|
January 27, 2000
BamHI-SacI RFLP and Gm analysis of the immunoglobulin IGHG genes in the Northern Selkups (west Siberia): new haplotypes with deletion, duplication and triplication
L P Osipova, O L Posukh, V P Wiebe, et al.
Human Genetics
|
January 27, 2000
A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
K Buiting, C Lich, S Cottrell, et al.
Human Genetics
|
May 8, 2000
Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia
M Takayanagi, S Kure, Y Sakata, et al.
Human Genetics
|
May 8, 2000
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features
M Adachi, K Tachibana, Y Asakura, et al.
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of 1,126
Search research articles
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Showing results (21-30 of 11,257) with videos related to
Sort By:
Page
of 1,126
Human Genetics
|
September 10, 1999
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype
M A Maxwell, P V Nelson, S J Chin, et al.
Human Genetics
|
September 10, 1999
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer
Q Wang, C Lasset, F Desseigne, et al.
Human Genetics
|
September 10, 1999
Cell fusion corrects the 4-nitroquinoline 1-oxide sensitivity of Werner syndrome fibroblast cell lines
P R Prince, C E Ogburn, M J Moser, et al.
Human Genetics
|
September 10, 1999
The frequency of lysosomal storage diseases in The Netherlands
B J Poorthuis, R A Wevers, W J Kleijer, et al.
Human Genetics
|
September 10, 1999
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin
V Berry, D Mackay, S Khaliq, et al.
Human Genetics
|
September 10, 1999
Association between M/L55-polymorphism of paraoxonase enzyme and oxidative DNA damage in patients with type 2 diabetes mellitus and in control subjects
R Malin, V Rantalaiho, X H Huang, et al.
Human Genetics
|
January 27, 2000
BamHI-SacI RFLP and Gm analysis of the immunoglobulin IGHG genes in the Northern Selkups (west Siberia): new haplotypes with deletion, duplication and triplication
L P Osipova, O L Posukh, V P Wiebe, et al.
Human Genetics
|
January 27, 2000
A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
K Buiting, C Lich, S Cottrell, et al.
Human Genetics
|
May 8, 2000
Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia
M Takayanagi, S Kure, Y Sakata, et al.
Human Genetics
|
May 8, 2000
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features
M Adachi, K Tachibana, Y Asakura, et al.
Page
of 1,126