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De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5′ end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations (2007)

Yue, Ying ; Farcas, Ruxandra ; Thiel, Gundula ; [et al.]

Springer Nature

In: European Journal of Human Genetics. 2007; 15(5): 570-577. Published 2007 Feb 28. doi: 10.1038/sj.ejhg.5201795.

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Publication Date: 2007-02-28

Print ISSN: 1018-4813

Electronic ISSN: 1476-5438

Topics: Biology , Medicine

Published by Springer Nature

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FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates (2000)

Shan, Zhihong ; Zabel, Bernhard ; Trautmann, Udo ; [et al.]

Springer Nature

In: European Journal of Human Genetics. 2000; 8(3): 167-173. Published 2000 Mar 01. doi: 10.1038/sj.ejhg.5200431.

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Publication Date: 2000-03-01

Print ISSN: 1018-4813

Electronic ISSN: 1476-5438

Topics: Biology , Medicine

Published by Springer Nature

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Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6 (2013)

Rost, Simone ; Bach, Elisa ; Neuner, Cordula ; [et al.]

Springer Nature

In: European Journal of Human Genetics. 2013; 22(2): 208-215. Published 2013 May 29. doi: 10.1038/ejhg.2013.108.

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Publication Date: 2013-05-29

Print ISSN: 1018-4813

Electronic ISSN: 1476-5438

Topics: Biology , Medicine

Published by Springer Nature

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