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Human mutation

Showing results (821-830 of 6,545) with videos related to

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Human Mutation|January 1, 1996
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndromeF Katz, S Hinshelwood, P Rutland, et al.
Human Mutation|January 1, 1996
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndromeS Fuchs, D van de Pol, U Beudt, et al.
Human Mutation|January 1, 1996
Population-specific screening by mutation analysis for diseases frequent in Ashkenazi JewsJ M DeMarchi, C T Caskey, C S Richards
Human Mutation|January 1, 1996
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markersN Morral, T Dörk, R Llevadot, et al.
Human Mutation|January 1, 1996
Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresisY Wu, R M Hofstra, H Scheffer, et al.
Human Mutation|January 1, 1996
Clinically applicable mutation screening in familial hypercholesterolemiaH Nissen, P Guldberg, A B Hansen, et al.
Human Mutation|January 1, 1996
New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadismA Meloni, A Meloni, A Cao, et al.
Human Mutation|January 1, 1996
Two new variants of RAG-1 protein predicted by SSCPJ F Nomdedéu, A Lasa, R Seminago, et al.
Human Mutation|April 19, 2006
Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine responseX Chen, L Wang, R Fazlieva, et al.
Human Mutation|March 17, 2006
Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndromeLeomar Y Ballester, D Woodrow Benson, Brenda Wong, et al.
Pageof 655

Showing results (821-830 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1996
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndromeF Katz, S Hinshelwood, P Rutland, et al.
Human Mutation|January 1, 1996
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndromeS Fuchs, D van de Pol, U Beudt, et al.
Human Mutation|January 1, 1996
Population-specific screening by mutation analysis for diseases frequent in Ashkenazi JewsJ M DeMarchi, C T Caskey, C S Richards
Human Mutation|January 1, 1996
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markersN Morral, T Dörk, R Llevadot, et al.
Human Mutation|January 1, 1996
Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresisY Wu, R M Hofstra, H Scheffer, et al.
Human Mutation|January 1, 1996
Clinically applicable mutation screening in familial hypercholesterolemiaH Nissen, P Guldberg, A B Hansen, et al.
Human Mutation|January 1, 1996
New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadismA Meloni, A Meloni, A Cao, et al.
Human Mutation|January 1, 1996
Two new variants of RAG-1 protein predicted by SSCPJ F Nomdedéu, A Lasa, R Seminago, et al.
Human Mutation|April 19, 2006
Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine responseX Chen, L Wang, R Fazlieva, et al.
Human Mutation|March 17, 2006
Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndromeLeomar Y Ballester, D Woodrow Benson, Brenda Wong, et al.
Pageof 655