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Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
Goyette P, Christensen B, Rosenblatt DS, Rozen R. Goyette P, et al. Among authors: rozen r. Am J Hum Genet. 1996 Dec;59(6):1268-75. Am J Hum Genet. 1996. PMID: 8940272 Free PMC article.
Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec.
John SW, Rozen R, Laframboise R, Laberge C, Scriver CR. John SW, et al. Among authors: rozen r. Hum Mutat. 1992;1(1):72-4. doi: 10.1002/humu.1380010112. Hum Mutat. 1992. PMID: 1301193 No abstract available.
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.
John SW, Scriver CR, Laframboise R, Rozen R. John SW, et al. Among authors: rozen r. Hum Mutat. 1992;1(2):147-53. doi: 10.1002/humu.1380010210. Hum Mutat. 1992. PMID: 1301201
Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.
Rozen R, De Braekeleer M, Daigneault J, Ferreira-Rajabi L, Gerdes M, Lamoureux L, Aubin G, Simard F, Fujiwara TM, Morgan K. Rozen R, et al. Am J Med Genet. 1992 Feb 1;42(3):360-4. doi: 10.1002/ajmg.1320420322. Am J Med Genet. 1992. PMID: 1536179
Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease.
Slipetz DM, Aprille JR, Goodyer PR, Rozen R. Slipetz DM, et al. Among authors: rozen r. Am J Hum Genet. 1991 Mar;48(3):502-10. Am J Hum Genet. 1991. PMID: 1847791 Free PMC article.
Deficient synthesis of MTHFD, a trifunctional folate-dependent enzyme, in the CHO Ade E mutant.
Mascisch A, Rozen R. Mascisch A, et al. Among authors: rozen r. Somat Cell Mol Genet. 1991 Jul;17(4):391-8. doi: 10.1007/BF01233064. Somat Cell Mol Genet. 1991. PMID: 1887335
Congenital deficiency of a 20-kDa subunit of mitochondrial complex I in fibroblasts.
Slipetz DM, Goodyer PR, Rozen R. Slipetz DM, et al. Among authors: rozen r. Am J Hum Genet. 1991 Jun;48(6):1121-6. Am J Hum Genet. 1991. PMID: 1903590 Free PMC article.
A pseudogene on the X chromosome for the human trifunctional enzyme MTHFD (methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase).
Italiano C, John SW, Hum DW, MacKenzie RE, Rozen R. Italiano C, et al. Among authors: rozen r. Genomics. 1991 Aug;10(4):1073-4. doi: 10.1016/0888-7543(91)90201-o. Genomics. 1991. PMID: 1916813
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.
John SW, Rozen R, Scriver CR, Laframboise R, Laberge C. John SW, et al. Among authors: rozen r. Am J Hum Genet. 1990 May;46(5):970-4. Am J Hum Genet. 1990. PMID: 1971147 Free PMC article.
Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families.
Rozen R, Schwartz RH, Hilman BC, Stanislovitis P, Horn GT, Klinger K, Daigneault J, De Braekeleer M, Kerem B, Tsui L, et al. Rozen R, et al. Am J Hum Genet. 1990 Oct;47(4):606-10. Am J Hum Genet. 1990. PMID: 2220803 Free PMC article.
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