Found: 7
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Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 6, p. 543, doi. 10.1111/cge.12200
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- Article
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 4, p. 367, doi. 10.1111/j.1399-0004.2010.01525.x
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- Article
Molecular analysis of 30 Niemann-Pick type C patients from Spain.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 1, p. 39, doi. 10.1111/j.1399-0004.2010.01504.x
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- Article
Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 109, doi. 10.1111/j.1399-0004.2007.00843.x
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- Article
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
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- Clinical Genetics, 2007, v. 71, n. 3, p. 273, doi. 10.1111/j.1399-0004.2007.00767.x
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- Article
Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 3, p. 207, doi. 10.1002/(SICI)1097-0223(199803)18:3<207::AID-PD243>3.0.CO;2-W
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- Article
Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease.
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- Clinical Genetics, 1996, v. 50, n. 5, p. 380, doi. 10.1111/j.1399-0004.1996.tb02392.x
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- Article