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Human mutation

Showing results (581-590 of 6,543) with videos related to

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Human Mutation|January 1, 1996
Fumarylacetoacetase mutations in tyrosinaemia type IH Rootwelt, K Høie, R Berger, et al.
Human Mutation|January 1, 1996
Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FACJ R Lo Ten Foe, M A Rooimans, H Joenje, et al.
Human Mutation|January 1, 1996
Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patientA Duarte, M Amaral, C Barreto, et al.
Human Mutation|January 1, 1996
Four novel germline mutations of the APC geneD Wells, P Chapman, J C Landgrebe, et al.
Human Mutation|January 1, 1996
Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information CoreF J Couch, B L Weber
Human Mutation|January 1, 1996
Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patientsJ M Soria, M Morell, X Estivill, et al.
Human Mutation|January 1, 1996
Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathyF Schiavon, C Fracasso, M L Mostacciuolo
Human Mutation|January 1, 1996
Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the beta-globin geneC Badens, I Thuret, G Michel, et al.
Human Mutation|January 1, 1996
New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque familyC Reig, A I Alvarez, I Tejada, et al.
Human Mutation|January 1, 1996
Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancerH M Jeon, P M Lynch, L Howard, et al.
Pageof 655

Showing results (581-590 of 6,543) with videos related to

Sort By:
Pageof 655
Human Mutation|January 1, 1996
Fumarylacetoacetase mutations in tyrosinaemia type IH Rootwelt, K Høie, R Berger, et al.
Human Mutation|January 1, 1996
Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FACJ R Lo Ten Foe, M A Rooimans, H Joenje, et al.
Human Mutation|January 1, 1996
Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patientA Duarte, M Amaral, C Barreto, et al.
Human Mutation|January 1, 1996
Four novel germline mutations of the APC geneD Wells, P Chapman, J C Landgrebe, et al.
Human Mutation|January 1, 1996
Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information CoreF J Couch, B L Weber
Human Mutation|January 1, 1996
Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patientsJ M Soria, M Morell, X Estivill, et al.
Human Mutation|January 1, 1996
Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathyF Schiavon, C Fracasso, M L Mostacciuolo
Human Mutation|January 1, 1996
Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the beta-globin geneC Badens, I Thuret, G Michel, et al.
Human Mutation|January 1, 1996
New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque familyC Reig, A I Alvarez, I Tejada, et al.
Human Mutation|January 1, 1996
Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancerH M Jeon, P M Lynch, L Howard, et al.
Pageof 655