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Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
Leonard H, Colvin L, Christodoulou J, Schiavello T, Williamson S, Davis M, Ravine D, Fyfe S, de Klerk N, Matsuishi T, Kondo I, Clarke A, Hackwell S, Yamashita Y. Leonard H, et al. Among authors: de klerk n. J Med Genet. 2003 May;40(5):e52. doi: 10.1136/jmg.40.5.e52. J Med Genet. 2003. PMID: 12746406 Free PMC article. No abstract available.
Refining the phenotype of common mutations in Rett syndrome.
Colvin L, Leonard H, de Klerk N, Davis M, Weaving L, Williamson S, Christodoulou J. Colvin L, et al. Among authors: de klerk n. J Med Genet. 2004 Jan;41(1):25-30. doi: 10.1136/jmg.2003.011130. J Med Genet. 2004. PMID: 14729826 Free PMC article. No abstract available.
Describing the phenotype in Rett syndrome using a population database.
Colvin L, Fyfe S, Leonard S, Schiavello T, Ellaway C, De Klerk N, Christodoulou J, Msall M, Leonard H. Colvin L, et al. Among authors: de klerk n. Arch Dis Child. 2003 Jan;88(1):38-43. doi: 10.1136/adc.88.1.38. Arch Dis Child. 2003. PMID: 12495959 Free PMC article.
Effectiveness of a 3 + 0 pneumococcal conjugate vaccine schedule against invasive pneumococcal disease among a birth cohort of 1.4 million children in Australia.
Gidding HF, McCallum L, Fathima P, Moore HC, Snelling TL, Blyth CC, Jayasinghe S, Giele C, de Klerk N, Andrews RM, McIntyre PB; ACIR linkage Investigator Team. Gidding HF, et al. Among authors: de klerk n. Vaccine. 2018 May 3;36(19):2650-2656. doi: 10.1016/j.vaccine.2018.03.058. Epub 2018 Apr 5. Vaccine. 2018. PMID: 29627233
489 results