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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: aula p. Clin Genet. 1985 Oct;28(4):317-20. doi: 10.1111/j.1399-0004.1985.tb00405.x. Clin Genet. 1985. PMID: 2998655
Improved technique for the expression of fragile-X in cultured amniotic fluid cells.
von Koskull H, Aula P, Ammälä P, Nordström AM, Rapola J. von Koskull H, et al. Among authors: aula p. Hum Genet. 1985;69(3):218-23. doi: 10.1007/BF00293028. Hum Genet. 1985. PMID: 3156804
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program.
Haataja L, Schleutker J, Renlund M, Palotie A, Peltonen L, Aula P. Haataja L, et al. Among authors: aula p. Hum Genet. 1992 Jan;88(3):298-300. doi: 10.1007/BF00197263. Hum Genet. 1992. PMID: 1733832
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.
Schleutker J, Sistonen P, Aula P. Schleutker J, et al. Among authors: aula p. J Med Genet. 1996 Jan;33(1):36-41. doi: 10.1136/jmg.33.1.36. J Med Genet. 1996. PMID: 8825046 Free PMC article.
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.
Järvinen O, Hietala M, Aalto AM, Arvio M, Uutela A, Aula P, Kääriäinen H. Järvinen O, et al. Among authors: aula p. Clin Genet. 2000 Dec;58(6):447-54. doi: 10.1034/j.1399-0004.2000.580604.x. Clin Genet. 2000. PMID: 11149613
The psychosocial well-being of the study subjects measured by the RAND 36 item Health Survey 1.0 (RAND) was, in general, at least as good as that of controls, and showed no significant differences between carriers and non-carriers (p > 0.154). ...
The psychosocial well-being of the study subjects measured by the RAND 36 item Health Survey 1.0 (RAND) was, in general, at least as good as …
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.
Vilkki J, Ott J, Savontaus ML, Aula P, Nikoskelainen EK. Vilkki J, et al. Among authors: aula p. Am J Hum Genet. 1991 Mar;48(3):486-91. Am J Hum Genet. 1991. PMID: 1998335 Free PMC article.
Second trimester prenatal diagnosis of the fragile X.
Tommerup N, Aula P, Gustavii B, Heiberg A, Holmgren G, von Koskull H, Leisti J, Mikkelsen M, Mitelman F, Nielsen KB, et al. Tommerup N, et al. Among authors: aula p. Am J Med Genet. 1986 Jan-Feb;23(1-2):313-24. doi: 10.1002/ajmg.1320230124. Am J Med Genet. 1986. PMID: 2937296
Incomplete prenatal diagnosis of G-trisomy mosaicism.
Simola K, Aula P, Ryynänen M, Koskull HV. Simola K, et al. Among authors: aula p. Clin Genet. 1978 Jun;13(6):500-3. doi: 10.1111/j.1399-0004.1978.tb01205.x. Clin Genet. 1978. PMID: 668186
Partial trisomy 21.
Aula P, Leisti J, von Koskull H. Aula P, et al. Clin Genet. 1973;4(3):241-51. doi: 10.1111/j.1399-0004.1973.tb01149.x. Clin Genet. 1973. PMID: 4128808 No abstract available.
Fetal gonadal histology in XXXXY, XYY and XXX syndromes.
Autio-Harmainen H, Rapola J, Aula P. Autio-Harmainen H, et al. Among authors: aula p. Clin Genet. 1980 Jul;18(1):1-5. doi: 10.1111/j.1399-0004.1980.tb01356.x. Clin Genet. 1980. PMID: 7418248
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