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Results 1 to 25 of 68955

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Nonsense-mediated decay in genetic disease: Friend or foe?MILLER, Jake N; PEARCE, David A.Mutation research. Reviews in mutation research. 2014, Vol 762, pp 52-64, issn 1383-5742, 13 p.Article

The mTOR pathway and its role in human genetic diseasesROSNER, Margit; HANNEDER, Michaela; SIEGEL, Nicol et al.Mutation research. Reviews in mutation research. 2008, Vol 659, Num 3, pp 284-292, issn 1383-5742, 9 p.Article

Maladies démyélinisantes d'origine génétique : Maladies démyélinisantes du système nerveux central = Genetic demyelinating diseases : Central nervous system demyelinating diseasesLABAUGE, Pierre; BOESPFLUG-TANGUY, Odile.La Presse médicale (1983). 2010, Vol 39, Num 3, pp 363-370, issn 0755-4982, 8 p.Article

Maladies génétiques = Genetic diseasesMS. Médecine sciences. 2005, Vol 21, Num 11, issn 0767-0974, 111 p.Serial Issue

Le génie génétique et le dépistage des maladies = Genetic engineering and diseases screeningWILLIAMSON, R.Médecine et hygiène. 1983, Vol 41, Num 1540, pp 4112-4120, issn 0025-6749Article

Etudes médico-génétiques des populations de Turkménie. III: Pathologie héréditaire chez les turkmen-NochurliGINTER, E. K; TURAEVA, SH. M; REVAZOV, A. A et al.Genetika. 1983, Vol 19, Num 8, pp 1344-1352, issn 0016-6758Article

Recent research developments in human genetics (Volume 2, 2004)Pandalai, S. G.Recent research developments in human genetics. 2004, isbn 81-7736-212-7, 223 p., isbn 81-7736-212-7Book

Heritable nail disordersKUCIRKA, S. J; SCHER, R. K.Dermatologic clinics. 1987, Vol 5, Num 1, pp 179-191, issn 0733-8635Article

Towards a complete resolution of the genetic architecture of diseaseSINGLETON, Andrew B; HARDY, John; TRAYNOR, Bryan J et al.Trends in genetics (Regular ed.). 2010, Vol 26, Num 10, pp 438-442, issn 0168-9525, 5 p.Article

Effectiveness of prevention of cystic fibrosis by artificial insemination by donor can be markedly improved by DNA-analysis of sperm donorsTEN KATE, L. P; TE MEERMAN, G. J; BUYS, C. H. C. M et al.American journal of medical genetics. 1989, Vol 32, Num 1, pp 148-149, issn 0148-7299, 2 p.Article

Benign familial hematuriaYOSHIKAWA, N; MATSUYAMA, S; IIJIMA, K et al.Archives of pathology & laboratory medicine (1976). 1988, Vol 112, Num 8, pp 794-797, issn 0363-0153Article

Heritable disorders of hairBIRNBAUM, P. S; BADEN, H. P.Dermatologic clinics. 1987, Vol 5, Num 1, pp 137-153, issn 0733-8635Article

A preliminary study of the mechanism of the hypoglycemic effect of polymeric prostaglandin PGBx in hereditary diabetic mice: insulin response curvesCOPE, F. W.Physiological chemistry and physics. 1982, Vol 14, Num 5, pp 420-422, issn 0031-9325Article

Discovery of a novel Torque teno sus virus species: genetic characterization, epidemiological assessment and disease associationCORNELISSEN-KEIJSERS, Vivian; JIMENEZ-MELSIO, Alexandra; SONNEMANS, Denny et al.Journal of general virology. 2012, Vol 93, pp 2682-2691, issn 0022-1317, 10 p., 12Article

Genetics of neurodegenerative diseases: insights from high-throughput resequencingTSUJI, Shoji.Human molecular genetics (Print). 2010, Vol 19, Num 1, issn 0964-6906, R65-R70, NSArticle

Bone marrow replacement in the treatment of hemolytic disease in miceBERNSTEIN, S. E; DEVEAU, S. A.Experimental hematology. 1989, Vol 17, Num 10, pp 0004-1010, issn 0301-472X, 1007 p.Article

Autosomal dominant congenital cataract on chromosome 16MARNER, E.Clinical genetics. 1989, Vol 36, Num 5, issn 0009-9163, p. 326Conference Paper

An Excess of G over C Nucleotides in Mutagenesis of Human Genetic DiseasesLI XIAO; WANPING SUN; JIA ZHANG et al.Molecular biotechnology. 2011, Vol 48, Num 1, pp 1-6, issn 1073-6085, 6 p.Article

Energy matters: Mitochondrial proteomics for biomedicineGIANAZZA, Elisabetta; EBERINI, Ivano; SENSI, Cristina et al.Proteomics (Weinheim. Print). 2011, Vol 11, Num 4, pp 657-674, issn 1615-9853, 18 p.Article

Rev1 enhances CAG·CTG repeat stability in Saccharomyces cerevisiaeCOLLINS, Natasha S; BHATTACHARYYA, Saumitri; LAHUE, Robert S et al.DNA repair. 2007, Vol 6, Num 1, pp 38-44, issn 1568-7864, 7 p.Article

Unique Disease Heritage of the Dutch-German Mennonite PopulationORTON, Noelle C; INNES, A. Micheil; CHUDLEY, Albert E et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 8, pp 1072-1087, issn 1552-4825, 16 p.Article

Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-EcuadorBERNAL, J. E; BRICENO, I.Clinical genetics. 2006, Vol 70, Num 3, pp 188-191, issn 0009-9163, 4 p.Article

Gene Therapy Progress and Prospects : Fetal gene therapy - first proofs of concept - some adverse effectsCOUTELLE, C; THEMIS, M; WADDINGTON, S. N et al.Gene therapy (Basingstoke). 2005, Vol 12, Num 22, pp 1601-1607, issn 0969-7128, 7 p.Article

The expanding clinical and genetic spectrum of ATP1A3-related disordersROSEWICH, Hendrik; OHLENBUSCH, Andreas; GÄRTNER, Jutta et al.Neurology. 2014, Vol 82, Num 11, pp 945-955, issn 0028-3878, 11 p.Article

Functional modules, mutational load and human genetic diseaseZAGHLOUL, Norann A; KATSANIS, Nicholas.Trends in genetics (Regular ed.). 2010, Vol 26, Num 4, pp 168-176, issn 0168-9525, 9 p.Article

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