Two Patients with X Chromosome Duplication: dupXp and dupXq
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|Feb 2010References
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DOI: https://doi.org/10.2478/v10034-010-0008-6 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Language: English
Page range: 59 - 63
Published on: Feb 19, 2010
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
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© 2010 O Ozer, Z Yilmaz, E Simsek, M Derbent, S Guner, F Sahin, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.