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Human Mutation
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February 6, 1998
Novel 5 bp germline deletion in exon 11 of the BRCA1 gene
A C Schofield, N E Haites
Human Mutation
|
February 6, 1998
Use of conformation sensitive gel electrophoresis to detect single-base changes in the gene for COL10A1
J Körkkö, J Milunsky, D J Prockop, et al.
Human Mutation
|
February 6, 1998
Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia
G F Saunders, L Y Chao
Human Mutation
|
February 6, 1998
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1)
E Sorour, M Upadhyaya
Human Mutation
|
February 6, 1998
Mutation analysis in 11 French patients with Fabry disease
N Guffon, R Froissart, F Chevalier-Porst, et al.
Human Mutation
|
February 6, 1998
Missense mutation (I143T) in a Japanese patient with Canavan disease
K Kobayashi, S Tsujino, T Ezoe, et al.
Human Mutation
|
March 3, 1998
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy
B Gerull, K J Osterziel, C Witt, et al.
Human Mutation
|
February 5, 1998
Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts
K Lai, S D Langley, P P Dembure, et al.
Human Mutation
|
February 5, 1998
Mutation analysis of interleukin-5 in an asthmatic cohort
E Pereira, J Goldblatt, P Rye, et al.
Human Mutation
|
January 1, 1997
Imprinting mutations on human chromosome 15
B Horsthemke, B Dittrich, K Buiting
Page
of 655
Search research articles
Search
Showing results (381-390 of 6,541) with videos related to
Sort By:
Page
of 655
Human Mutation
|
February 6, 1998
Novel 5 bp germline deletion in exon 11 of the BRCA1 gene
A C Schofield, N E Haites
Human Mutation
|
February 6, 1998
Use of conformation sensitive gel electrophoresis to detect single-base changes in the gene for COL10A1
J Körkkö, J Milunsky, D J Prockop, et al.
Human Mutation
|
February 6, 1998
Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia
G F Saunders, L Y Chao
Human Mutation
|
February 6, 1998
Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1)
E Sorour, M Upadhyaya
Human Mutation
|
February 6, 1998
Mutation analysis in 11 French patients with Fabry disease
N Guffon, R Froissart, F Chevalier-Porst, et al.
Human Mutation
|
February 6, 1998
Missense mutation (I143T) in a Japanese patient with Canavan disease
K Kobayashi, S Tsujino, T Ezoe, et al.
Human Mutation
|
March 3, 1998
A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy
B Gerull, K J Osterziel, C Witt, et al.
Human Mutation
|
February 5, 1998
Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts
K Lai, S D Langley, P P Dembure, et al.
Human Mutation
|
February 5, 1998
Mutation analysis of interleukin-5 in an asthmatic cohort
E Pereira, J Goldblatt, P Rye, et al.
Human Mutation
|
January 1, 1997
Imprinting mutations on human chromosome 15
B Horsthemke, B Dittrich, K Buiting
Page
of 655