Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family

por Ch’ng, Gaik-Siew, An, Seong Soo A, Bae, Sun Oh, Bagyinszky, Eva, Kim, SangYun
Publicado 2015

A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family

por Bagyinszky, Eva, Ch’ng, Gaik-Siew, Chan, Mei-Yan, An, Seong Soo A., Kim, SangYun
Publicado 2021

A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients’ and caregivers’ perspectives

por Ch’ng, Gaik Siew, Koh, Karina, Ahmad-Annuar, Azlina, Taib, Fahisham, Koh, Cha Ling, Lim, Edmund Soon Chin
Publicado 2022

Cost-Effectiveness of Colorectal Cancer Genetic Testing

por Ramdzan, Abdul Rahman, Manaf, Mohd Rizal Abdul, Aizuddin, Azimatun Noor, Latiff, Zarina A., Teik, Keng Wee, Ch'ng, Gaik-Siew, Ganasegeran, Kurubaran, Aljunid, Syed Mohamed
Publicado 2021

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy

por Shiraku, Hiroshi, Nakashima, Mitsuko, Takeshita, Saoko, Khoo, Chai‐Soon, Haniffa, Muzhirah, Ch'ng, Gaik‐Siew, Takada, Kazuma, Nakajima, Keisuke, Ohta, Masayasu, Okanishi, Tohru, Kanai, Sotaro, Fujimoto, Ayataka, Saitsu, Hirotomo, Matsumoto, Naomichi, Kato, Mitsuhiro
Publicado 2018

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

por Hamanaka, Kohei, Miyake, Noriko, Mizuguchi, Takeshi, Miyatake, Satoko, Uchiyama, Yuri, Tsuchida, Naomi, Sekiguchi, Futoshi, Mitsuhashi, Satomi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamada, Kohei, Sakamoto, Masamune, Fukuda, Hiromi, Ohori, Sachiko, Saida, Ken, Itai, Toshiyuki, Azuma, Yoshiteru, Koshimizu, Eriko, Fujita, Atsushi, Erturk, Biray, Hiraki, Yoko, Ch’ng, Gaik-Siew, Kato, Mitsuhiro, Okamoto, Nobuhiko, Takata, Atsushi, Matsumoto, Naomichi
Publicado 2022