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["Girl" 46,XY].
Penttinen M, Edelman K. Penttinen M, et al. Duodecim. 1998;114(9):898-900. Duodecim. 1998. PMID: 11524809 Finnish. No abstract available.
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.
Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, Penttinen M, Cordeiro I, Ponder M, Ponder BA, Krawczak M, Cooper DN. Upadhyaya M, et al. Among authors: penttinen m. Hum Genet. 1998 May;102(5):591-7. doi: 10.1007/s004390050746. Hum Genet. 1998. PMID: 9654211
The mutation spectrum in Holt-Oram syndrome.
Cross SJ, Ching YH, Li QY, Armstrong-Buisseret L, Spranger S, Lyonnet S, Bonnet D, Penttinen M, Jonveaux P, Leheup B, Mortier G, Van Ravenswaaij C, Gardiner CA. Cross SJ, et al. Among authors: penttinen m. J Med Genet. 2000 Oct;37(10):785-7. doi: 10.1136/jmg.37.10.785. J Med Genet. 2000. PMID: 11183182 Free PMC article. No abstract available.
[Fabry disease].
Kantola I, Penttinen M, Nuutila P, Viikari J. Kantola I, et al. Among authors: penttinen m. Duodecim. 2012;128(7):729-39. Duodecim. 2012. PMID: 22612023 Review. Finnish.
60 results