Salonen R - Search Results

1

A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm.

Luukkonen TM, Pöyhönen M, Palotie A, Ellonen P, Lagström S, Lee JH, Terwilliger JD, Salonen R, Varilo T. Luukkonen TM, et al. Among authors: salonen r. J Med Genet. 2012 Oct;49(10):621-9. doi: 10.1136/jmedgenet-2012-100977. J Med Genet. 2012. PMID: 23054244 Free PMC article.

2

Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

Visapää I, Salonen R, Varilo T, Paavola P, Peltonen L. Visapää I, et al. Among authors: salonen r. Am J Hum Genet. 1999 Oct;65(4):1086-95. doi: 10.1086/302603. Am J Hum Genet. 1999. PMID: 10486328 Free PMC article.

3

Mutant CHUK and severe fetal encasement malformation.

Lahtela J, Nousiainen HO, Stefanovic V, Tallila J, Viskari H, Karikoski R, Gentile M, Saloranta C, Varilo T, Salonen R, Kestilä M. Lahtela J, et al. Among authors: salonen r. N Engl J Med. 2010 Oct 21;363(17):1631-7. doi: 10.1056/NEJMoa0911698. N Engl J Med. 2010. PMID: 20961246 Free article.

4

Meckel syndrome.

Salonen R, Paavola P. Salonen R, et al. J Med Genet. 1998 Jun;35(6):497-501. doi: 10.1136/jmg.35.6.497. J Med Genet. 1998. PMID: 9643292 Free PMC article. Review.

5

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

Paavola P, Salonen R, Weissenbach J, Peltonen L. Paavola P, et al. Among authors: salonen r. Nat Genet. 1995 Oct;11(2):213-5. doi: 10.1038/ng1095-213. Nat Genet. 1995. PMID: 7550354

6

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.

Lehesjoki AE, Sankila EM, Miao J, Somer M, Salonen R, Rapola J, de la Chapelle A. Lehesjoki AE, et al. Among authors: salonen r. J Med Genet. 1990 May;27(5):288-91. doi: 10.1136/jmg.27.5.288. J Med Genet. 1990. PMID: 1972196 Free PMC article.

7

Prenatal diagnosis and carrier detection in fragile X.

von Koskull H, Nordström AM, Salonen R, Peltonen L. von Koskull H, et al. Among authors: salonen r. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):174-80. doi: 10.1002/ajmg.1320430129. Am J Med Genet. 1992. PMID: 1605189

8

Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.

Hästbacka J, Salonen R, Laurila P, de la Chapelle A, Kaitila I. Hästbacka J, et al. Among authors: salonen r. J Med Genet. 1993 Apr;30(4):265-8. doi: 10.1136/jmg.30.4.265. J Med Genet. 1993. PMID: 8487268 Free PMC article.

9

Hydrolethalus syndrome.

Salonen R, Herva R. Salonen R, et al. J Med Genet. 1990 Dec;27(12):756-9. doi: 10.1136/jmg.27.12.756. J Med Genet. 1990. PMID: 2074561 Free PMC article. No abstract available.

10

FRAXA locus in fragile X diagnosis: family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation.

von Koskull H, Gahmberg N, Salonen R, Salo A, Peippo M. von Koskull H, et al. Among authors: salonen r. Am J Med Genet. 1994 Jul 15;51(4):486-9. doi: 10.1002/ajmg.1320510438. Am J Med Genet. 1994. PMID: 7943025

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