Found: 6
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Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1.
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 10, p. 964, doi. 10.1002/(SICI)1097-0223(199710)17:10<964::AID-PD164>3.0.CO;2-6
- By:
- Publication type:
- Article
DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).
- Published in:
- 1991
- By:
- Publication type:
- journal article
An association between complement-fixing cytoplasmic islet cell antibodies and endogenous insulin secretion in children with insulin-dependent diabetes mellitus.
- Published in:
- 1983
- By:
- Publication type:
- journal article
A recurrent mutation in PALB2 in Finnish cancer families.
- Published in:
- Nature, 2007, v. 446, n. 7133, p. 316, doi. 10.1038/nature05609
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- Publication type:
- Article
Börjeson-Forssman-Lehmann Syndrome Due to a Novel Plant Homeodomain Zinc Finger Mutation in the PHF6 Gene.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 5, p. 610, doi. 10.1177/0883073808327830
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- Publication type:
- Article
Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis.
- Published in:
- Kidney International, 1997, v. 51, n. 3, p. 868, doi. 10.1111/1523-1755.ep14221311
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- Publication type:
- Article