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| 國立成功大學 |
2016-11 |
Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1
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Hsu, Chao-Kai; Liu, Lu; Can, Pelin K.; Kocaturk, Emek; McMillan, James R.; Gungor, Sule; Hurdogan, Ozge; Sargan, Aytul; Degirmentepe, Ece N.; Lee, John Y. W.; Simpson, Michael A.; McGrath, John A. |
| 國立成功大學 |
2016-05 |
Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti
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Guevara, Bryan Edgar K.; Hsu, Chao-Kai; Liu, Lu; Feast, Alice; Alabado, Karen Lee P.; Lacuesta, Maricarr Pamela M.; Lee, Julia Yu-Yun; McGrath, John A. |
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