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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Institution Date Title Author
國立成功大學 2022-12 Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients. Tu, Wei-Ting;Hou, Ping-Chen;Chen, Peng-Chieh;Chen, Wan-Rung;Huang, Hsin-Yu;Wang, Jing-Yu;Huang, Yi-Ting;Wu, Yi-Huei;Su, Chun-Lin;Tang, Yen-An;Iwata, Hiroaki;Natsuga, Ken;Chao, Sheau-Chiou;Sun, H. Sunny;Tang, Ming-Jer;Lee, Julia Yu-Yun;McGrath, John A.;Hsu, Chao-Kai; HSU, CHAO-KAI; 許釗凱
臺大學術典藏 2019-08-21T15:23:01Z Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 in Schizophrenia PEI-LUNG CHEN; Avramopoulos, Dimitrios; Lasseter, Virginia K.; McGrath, John A.; Fallin, M. Daniele; Liang, Kung Yee; Nestadt, Gerald; Feng, Ningping; Steel, Gary; Cutting, Andrew S.; Wolyniec, Paula; Pulver, Ann E.; Valle, David; Pei-Lung Chen;Avramopoulos, Dimitrios;Lasseter, Virginia K.;Mcgrath, John A.;Fallin, M. Daniele;Liang, Kung Yee;Nestadt, Gerald;Feng, Ningping;Steel, Gary;Cutting, Andrew S.;Wolyniec, Paula;Pulver, Ann E.;Valle, David
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 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 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.
國立成功大學 2016 Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function Takeichi, Takuya;Sugiura, Kazumitsu;Hsu, Chao-Kai;Nomura, Toshifumi;Takama, Hiroyuki;Simpson, Michael A.;Shimizu, Hiroshi;McGrath, John A.;Akiyama, Masashi
國立成功大學 2014-02 Treatment of Hereditary Epidermolysis Bullosa: Updates and Future Prospects Hsu, Chao-Kai; Wang, Sheng-Pei; Lee, Julia Yu-Yun; McGrath, John A.

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