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The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 8, p. 778, doi. 10.1002/pd.2766
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- Article
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 12, p. 1156, doi. 10.1002/pd.2371
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- Article
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102
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- Article
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 9, p. 789, doi. 10.1002/pd.2053
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- Article
Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1152, doi. 10.1002/ajmg.a.33942
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- Article
A Comparative Analysis of Ethical and Professional Challenges Experienced by Australian and U.S. Genetic Counselors.
- Published in:
- Journal of Genetic Counseling, 2009, v. 18, n. 4, p. 379, doi. 10.1007/s10897-009-9229-9
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- Article