Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXY
By: A Guzel, O Demirhan, A Pazarbasi and B Yuksel
Open Access
|Oct 2009References
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DOI: https://doi.org/10.2478/v10034-009-0003-y | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Language: English
Page range: 45 - 50
Published on: Oct 9, 2009
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
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© 2009 A Guzel, O Demirhan, A Pazarbasi, B Yuksel, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.