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Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1240, doi. 10.1038/sj.ejhg.5201700
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- Article
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
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- 2006
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- Correction Notice
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 3, p. 289, doi. 10.1038/sj.ejhg.5201558
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- Article
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
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- European Journal of Human Genetics, 2001, v. 9, n. 5, p. 319, doi. 10.1038/sj.ejhg.5200591
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- Article
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.
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- Human Mutation, 2004, v. 24, n. 1, p. 103, doi. 10.1002/humu.9254
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- Article
Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: An in vitro model to study chondrodysplasias
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- FEBS Letters, 2007, v. 581, n. 14, p. 2593, doi. 10.1016/j.febslet.2007.04.079
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- Article