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Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 10, p. 820, doi. 10.1007/s10038-007-0187-5
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- Article
Inverted duplications: how many of them are mosaic?
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 713, doi. 10.1038/sj.ejhg.5201240
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- Article
IDENTIFICATION OF THE Y CHROMOSOME BY THE FLUORESCENCE TECHNIQUE IN AN XY/X0 GONADAL DYSGENESIS.
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- Acta Paediatrica, 1971, v. 60, n. 6, p. 716, doi. 10.1111/j.1651-2227.1971.tb07014.x
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- Article
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histiocytosis.
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- British Journal of Haematology, 2000, v. 111, n. 1, p. 258
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- Article
Does growth hormone treatment increase chromosomal abnormalities?
- Published in:
- Clinical Endocrinology, 1997, v. 47, n. 3, p. 363, doi. 10.1046/j.1365-2265.1997.2731074.x
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- Article
Homozygous and Compound Heterozygous Mutations at the Werner Syndrome Locus.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1909, doi. 10.1093/hmg/5.12.1909
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- Article