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Human mutation

Showing results (481-490 of 6,541) with videos related to

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Human Mutation|September 8, 1999
A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese populationM Nagano, T Iwasaki, H Hattori, et al.
Human Mutation|September 8, 1999
Identification of the new polymorphism IVS1-91 C-->T in the beta globin geneP Primignani, M Travi, A Biasi, et al.
Human Mutation|September 8, 1999
Mutation profile in the beta-myosin heavy chain gene in hypertensive hypertrophic heart diseaseC P Clifford, D J Nunez
Human Mutation|September 8, 1999
Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridiaL Baum, C P Pang, D S Fan, et al.
Human Mutation|July 17, 1999
Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. OnlineB Pérez, L R Desviat, M De Lucca, et al.
Human Mutation|July 17, 1999
A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. OnlineP M Smooker, T J Gough, R G Cotton, et al.
Human Mutation|September 8, 1999
E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancerP J Guilford, J B Hopkins, W M Grady, et al.
Human Mutation|September 8, 1999
Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening methodK Storm, S Willocx, K Flothmann, et al.
Human Mutation|September 8, 1999
A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern ItalyG Castaldo, A Fuccio, C Cazeneuve, et al.
Human Mutation|August 14, 1999
IARC p53 mutation database: a relational database to compile and analyze p53 mutations in human tumors and cell lines. International Agency for Research on CancerT Hernandez-Boussard, P Rodriguez-Tome, R Montesano, et al.
Pageof 655

Showing results (481-490 of 6,541) with videos related to

Sort By:
Pageof 655
Human Mutation|September 8, 1999
A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese populationM Nagano, T Iwasaki, H Hattori, et al.
Human Mutation|September 8, 1999
Identification of the new polymorphism IVS1-91 C-->T in the beta globin geneP Primignani, M Travi, A Biasi, et al.
Human Mutation|September 8, 1999
Mutation profile in the beta-myosin heavy chain gene in hypertensive hypertrophic heart diseaseC P Clifford, D J Nunez
Human Mutation|September 8, 1999
Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridiaL Baum, C P Pang, D S Fan, et al.
Human Mutation|July 17, 1999
Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. OnlineB Pérez, L R Desviat, M De Lucca, et al.
Human Mutation|July 17, 1999
A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. OnlineP M Smooker, T J Gough, R G Cotton, et al.
Human Mutation|September 8, 1999
E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancerP J Guilford, J B Hopkins, W M Grady, et al.
Human Mutation|September 8, 1999
Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening methodK Storm, S Willocx, K Flothmann, et al.
Human Mutation|September 8, 1999
A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern ItalyG Castaldo, A Fuccio, C Cazeneuve, et al.
Human Mutation|August 14, 1999
IARC p53 mutation database: a relational database to compile and analyze p53 mutations in human tumors and cell lines. International Agency for Research on CancerT Hernandez-Boussard, P Rodriguez-Tome, R Montesano, et al.
Pageof 655