Found: 3
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Prenatal diagnosis of Apert syndrome: report of two cases.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 12, p. 1009, doi. 10.1002/pd.744
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- Publication type:
- Article
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1848, doi. 10.1002/ajmg.a.34057
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- Publication type:
- Article
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. 20, doi. 10.1002/humu.21150
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- Publication type:
- Article