Search Results - "Ong, Winnie P"

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy by Itai, Toshiyuki, Hamanaka, Kohei, Sasaki, Kazunori, Wagner, Matias, Kotzaeridou, Urania, Brösse, Ines, Ries, Markus, Kobayashi, Yu, Tohyama, Jun, Kato, Mitsuhiro, Ong, Winnie P., Chew, Hui B., Rethanavelu, Kavitha, Ranza, Emmanuelle, Blanc, Xavier, Uchiyama, Yuri, Tsuchida, Naomi, Fujita, Atsushi, Azuma, Yoshiteru, Koshimizu, Eriko, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Takahashi, Hidehisa, Miyagi, Etsuko, Tsurusaki, Yoshinori, Doi, Hiroshi, Taguri, Masataka, Antonarakis, Stylianos E., Nakashima, Mitsuko, Saitsu, Hirotomo, Miyatake, Satoko, Matsumoto, Naomichi

“…We report heterozygous CELF2 (NM_006561.3) variants in five unrelated individuals: Individuals 1–4 exhibited developmental and epileptic encephalopathy (DEE)…”
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CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis by Leung, Gordon K. C., Ying, Dingge, Mak, Christopher C. Y., Chen, Xin‐Ying, Xu, Weiyi, Yeung, Kit‐San, Wong, Wai‐Lap, Chu, Yoyo W. Y., Mok, Gary T. K., Chau, Christy S. K., McLuskey, Jenna, Ong, Winnie P. T., Leong, Huey‐Yin, Chan, Kelvin Y. K., Yang, Wanling, Chen, Jeng‐Haur, Li, Albert M., Sham, Pak C., Lau, Yu‐Lung, Chung, Brian H. Y., Lee, So‐Lun

“…Background Cystic fibrosis (CF) is a rare condition in Asians. Since 1985, only about 30 Chinese patients have been reported with molecular confirmation…”
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