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Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Childhood overgrowth in patients with common NF1 microdeletions.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 7, p. 883, doi. 10.1038/sj.ejhg.5201419
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- Publication type:
- Article
Chronic kidney disease in adolescent and adult patients with phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 747, doi. 10.1007/s10545-012-9548-0
- By:
- Publication type:
- Article
Phenylketonuria and hyperphenylalaninemia in eastern Germany: A characteristic molecular profile and 15 novel mutations.
- Published in:
- Human Mutation, 2000, v. 15, n. 3, p. 254, doi. 10.1002/(SICI)1098-1004(200003)15:3<254::AID-HUMU6>3.0.CO;2-W
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- Publication type:
- Article