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Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. [electronic resource] by
- Simsek-Kiper, Pelin O
- Taskiran, Ekim Z
- Kosukcu, Can
- Urel-Demir, Gizem
- Akgun-Dogan, Ozlem
- Yilmaz, Guney
- Utine, Gulen E
- Nishimura, Gen
- Boduroglu, Koray
- Alikasifoglu, Mehmet
Producer: 20190911
In:
American journal of medical genetics. Part A vol. 176
Availability: No items available.
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17.
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Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification. [electronic resource] by
- Ürel-Demir, Gizem
- Simsek-Kiper, Pelin Ozlem
- Akgün-Doğan, Özlem
- Göçmen, Rahşan
- Wang, Zheng
- Matsumoto, Naomichi
- Miyake, Noriko
- Utine, Gülen Eda
- Nishimura, Gen
- Ikegawa, Shiro
- Boduroglu, Koray
Producer: 20181211
In:
Journal of human genetics vol. 63
Availability: No items available.
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