Found: 4
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Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 67, doi. 10.1023/A:1005313724361
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- Publication type:
- Article
A mild variant of Desbuquois dysplasia.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1)
- Published in:
- 2010
- By:
- Publication type:
- Journal Article
Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.
- Published in:
- Journal of Human Genetics, 1999, v. 44, n. 4, p. 219, doi. 10.1007/s100380050147
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- Publication type:
- Article