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Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Väisänen ML, von Koskull H, Sherman SL. Nolin SL, et al. Among authors: von koskull h. Am J Hum Genet. 2003 Feb;72(2):454-64. doi: 10.1086/367713. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529854 Free PMC article.
Prenatal diagnosis and carrier detection in fragile X.
von Koskull H, Nordström AM, Salonen R, Peltonen L. von Koskull H, et al. 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
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: von koskull h. Am J Med Genet. 1986 Jan-Feb;23(1-2):313-24. doi: 10.1002/ajmg.1320230124. Am J Med Genet. 1986. PMID: 2937296
Molecular cytogenetic study of patients with Pallister-Killian syndrome.
Larramendy M, Heiskanen M, Wessman M, Ritvanen A, Peltomäki P, Simola K, Kääriäinen H, von Koskull H, Kähkönen M, Knuutila S. Larramendy M, et al. Among authors: von koskull h. Hum Genet. 1993 Mar;91(2):121-7. doi: 10.1007/BF00222711. Hum Genet. 1993. PMID: 8462971 Free article.
PAK3 related mental disability: further characterization of the phenotype.
Peippo M, Koivisto AM, Särkämö T, Sipponen M, von Koskull H, Ylisaukko-oja T, Rehnström K, Froyen G, Ignatius J, Järvelä I. Peippo M, et al. Among authors: von koskull h. Am J Med Genet A. 2007 Oct 15;143A(20):2406-16. doi: 10.1002/ajmg.a.31956. Am J Med Genet A. 2007. PMID: 17853471 Free article.
55 results