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Human Mutation
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February 19, 2000
High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia
T V Pogoda, I N Krakhmaleva, N A Lipatova, et al.
Human Mutation
|
February 19, 2000
IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3. The Danish Study Group of Diabetes in Childhood and The Danish IDDM Epidemiology and Genetics Group
O P Kristiansen, F Pociot, E P Bennett, et al.
Human Mutation
|
February 19, 2000
PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene
T Sugawara, H Shimizu, N Hoshi, et al.
Human Mutation
|
February 19, 2000
A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family
S Sakthivel, P K Joseph, J M Tharakan, et al.
Human Mutation
|
February 19, 2000
Identification of a novel large F9 gene mutation-an insertion of an Alu repeated DNA element in exon e of the factor 9 gene
K Wulff, H Gazda, W Schröder, et al.
Human Mutation
|
February 17, 2001
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
L M Allende, M A García-Pérez, A Moreno, et al.
Human Mutation
|
February 17, 2001
A new mutation in the BRCA1 gene (g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence
A Hardouin, J Baumann, G Roussel, et al.
Human Mutation
|
February 17, 2001
Three novel BRCA1 germline mutations (1104delAA, 1276delTT, 3747delGA) detected in breast/ovarian cancer families identified in the south of France
R Sauvan, T Noguchi, N Moyal-Amsellem, et al.
Human Mutation
|
February 17, 2001
A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses
Y R Shi, J Y Wu, F J Tsai, et al.
Human Mutation
|
August 3, 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
M Claustres, C Guittard, D Bozon, et al.
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of 656
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Showing results (1011-1020 of 6,552) with videos related to
Sort By:
Page
of 656
Human Mutation
|
February 19, 2000
High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia
T V Pogoda, I N Krakhmaleva, N A Lipatova, et al.
Human Mutation
|
February 19, 2000
IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3. The Danish Study Group of Diabetes in Childhood and The Danish IDDM Epidemiology and Genetics Group
O P Kristiansen, F Pociot, E P Bennett, et al.
Human Mutation
|
February 19, 2000
PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene
T Sugawara, H Shimizu, N Hoshi, et al.
Human Mutation
|
February 19, 2000
A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family
S Sakthivel, P K Joseph, J M Tharakan, et al.
Human Mutation
|
February 19, 2000
Identification of a novel large F9 gene mutation-an insertion of an Alu repeated DNA element in exon e of the factor 9 gene
K Wulff, H Gazda, W Schröder, et al.
Human Mutation
|
February 17, 2001
Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation
L M Allende, M A García-Pérez, A Moreno, et al.
Human Mutation
|
February 17, 2001
A new mutation in the BRCA1 gene (g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence
A Hardouin, J Baumann, G Roussel, et al.
Human Mutation
|
February 17, 2001
Three novel BRCA1 germline mutations (1104delAA, 1276delTT, 3747delGA) detected in breast/ovarian cancer families identified in the south of France
R Sauvan, T Noguchi, N Moyal-Amsellem, et al.
Human Mutation
|
February 17, 2001
A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses
Y R Shi, J Y Wu, F J Tsai, et al.
Human Mutation
|
August 3, 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
M Claustres, C Guittard, D Bozon, et al.
Page
of 656