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Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.
de la Chapelle A, Sankila EM, Lindlöf M, Aula P, Norio R. de la Chapelle A, et al. Among authors: norio r. Clin Genet. 1985 Oct;28(4):317-20. doi: 10.1111/j.1399-0004.1985.tb00405.x. Clin Genet. 1985. PMID: 2998655
Norrie disease gene is distinct from the monoamine oxidase genes.
Sims KB, Ozelius L, Corey T, Rinehart WB, Liberfarb R, Haines J, Chen WJ, Norio R, Sankila E, de la Chapelle A, et al. Sims KB, et al. Among authors: norio r. Am J Hum Genet. 1989 Sep;45(3):424-34. Am J Hum Genet. 1989. PMID: 2773935 Free PMC article.
Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report.
Joy JE, Poglod R, Murphy DL, Sims KB, de la Chapelle A, Sankila EM, Norio R, Merril CR. Joy JE, et al. Among authors: norio r. Appl Theor Electrophor. 1991;2(1):3-5. Appl Theor Electrophor. 1991. PMID: 1932207
Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives.
Furu T, Kääriäinen H, Sankila EM, Norio R. Furu T, et al. Among authors: norio r. Clin Genet. 1993 Mar;43(3):160-5. doi: 10.1111/j.1399-0004.1993.tb04463.x. Clin Genet. 1993. PMID: 8500262
Evaluation of genetic counselling: recall of information, post-counselling reproduction, and attitude of the counsellees.
Somer M, Mustonen H, Norio R. Somer M, et al. Among authors: norio r. Clin Genet. 1988 Dec;34(6):352-65. doi: 10.1111/j.1399-0004.1988.tb02893.x. Clin Genet. 1988. PMID: 3233783
Polycystic disease of liver: an entity of its own or not?
Norio R. Norio R. Clin Genet. 1983 Jan;23(1):78-9. doi: 10.1111/j.1399-0004.1983.tb00441.x. Clin Genet. 1983. PMID: 6831766 No abstract available.
Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families.
Norio R, Perheentupa J, Kekomäki M, Visakorpi JK. Norio R, et al. Clin Genet. 1971;2(4):214-22. doi: 10.1111/j.1399-0004.1971.tb00280.x. Clin Genet. 1971. PMID: 5146580 No abstract available.
The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.
Salonen R, Herva R, Norio R. Salonen R, et al. Among authors: norio r. Clin Genet. 1981 May;19(5):321-30. doi: 10.1111/j.1399-0004.1981.tb00718.x. Clin Genet. 1981. PMID: 7028327
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity.
Norio R, Raitta C, Lindahl E. Norio R, et al. Clin Genet. 1984 Jan;25(1):1-14. doi: 10.1111/j.1399-0004.1984.tb00456.x. Clin Genet. 1984. PMID: 6705238
Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment.
Norio R, Kääriäinen H, Rapola J, Herva R, Kekomäki M. Norio R, et al. Am J Med Genet. 1984 Feb;17(2):471-83. doi: 10.1002/ajmg.1320170210. Am J Med Genet. 1984. PMID: 6702899
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