Search Results - Ch'ng Gaik-Siew

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  1. 1
    Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family

    Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family by Ch’ng, Gaik-Siew, An, Seong Soo A, Bae, Sun Oh, Bagyinszky, Eva, Kim, SangYun

    Published 2015
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  2. 2
    A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family

    A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family by Bagyinszky, Eva, Ch’ng, Gaik-Siew, Chan, Mei-Yan, An, Seong Soo A., Kim, SangYun

    Published 2021
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  3. 3
    A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients’ and caregivers’ perspectives

    A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients’ and caregivers’ perspectives by Ch’ng, Gaik Siew, Koh, Karina, Ahmad-Annuar, Azlina, Taib, Fahisham, Koh, Cha Ling, Lim, Edmund Soon Chin

    Published 2022
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  4. 4
    SPTAN1 encephalopathy: distinct phenotypes and genotypes

    SPTAN1 encephalopathy: distinct phenotypes and genotypes by Jun Tohyama, Mitsuko Nakashima, Shin Nabatame, Ch'ng Gaik-Siew, Rie Miyata, Zvonka Rener‐Primec, Mitsuhiro Kato, Naomichi Matsumoto, Hirotomo Saitsu

    Published 2015
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  5. 5
    Cost-Effectiveness of Colorectal Cancer Genetic Testing

    Cost-Effectiveness of Colorectal Cancer Genetic Testing by 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

    Published 2021
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  6. 6
    AB168. Novel DYM compound heterozygous mutations in a Malaysian boy with Dyggve-Melchior-Clausen syndrome

    AB168. Novel DYM compound heterozygous mutations in a Malaysian boy with Dyggve-Melchior-Clausen syndrome by Ong, Winnie Peitee, Md Haniffa, Muzhirah Aisha, Leong, Huey Yin, Chew, Hui Bein, Ch’ng, Gaik Siew, Ngu, Lock Hock, Patel, Nisha, Hashem, Mais Omar, Alkuraya, Fowzan Sami, Keng, Wee Teik

    Published 2015
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  7. 7
    PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy

    PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy by 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

    Published 2018
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  8. 8
    Expanding the Genetic and Phenotypic Spectrum of Popliteal Pterygium Disorders

    Expanding the Genetic and Phenotypic Spectrum of Popliteal Pterygium Disorders by Leslie, Elizabeth J., O'Sullivan, James, Cunningham, Michael L., Singh, Ankur, Goudy, Steven L., Ababneh, Faroug, Alsubaie, Lamia, Ch'ng, Gaik-Siew, van der Laar, Ingrid M.B.H., Hoogeboom, A. Jeannette M., Dunnwald, Martine, Kapoor, Seema, Jiramongkolchai, Pawina, Standley, Jennifer, Manak, J. Robert, Murray, Jeffrey C., Dixon, Michael J.

    Published 2015
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  9. 9
    De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

    De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy by Hamanaka, Kohei, Imagawa, Eri, Koshimizu, Eriko, Miyatake, Satoko, Tohyama, Jun, Yamagata, Takanori, Miyauchi, Akihiko, Ekhilevitch, Nina, Nakamura, Fumio, Kawashima, Takeshi, Goshima, Yoshio, Mohamed, Ahmad Rithauddin, Ch'ng, Gaik-Siew, Fujita, Atsushi, Azuma, Yoshiteru, Yasuda, Ken, Imamura, Shintaro, Nakashima, Mitsuko, Saitsu, Hirotomo, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Matsumoto, Naomichi

    Published 2020
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  10. 10
    Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

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

    Published 2022
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  11. 11
    Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

    Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly by Braun, Daniela A., Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A., Schanze, Denny, Ashraf, Shazia, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I. Chiara, Sanchez-Ferras, Oraly, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E., Pabst, Werner L., Warejko, Jillian, Daga, Ankana, LeBerre, Tamara Basta, Matejas, Verena, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T., Gipson, Patrick E., Hsu, Chyong-Hsin, Kari, Jameela A., Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okasha, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Praet, Marleen, Prasad, Chitra, Prytula, Agnieszka, Roeder, Elizabeth, Rump, Patrick, Schnur, Rhonda E., Shiihara, Takashi, Sinha, Manish, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A., Tsai, Wen-Hui, Tsai, Jeng-Daw, Vester, Udo, Viskochil, David H., Vatanavicharn, Nithiwat, Waxler, Jessica L., Wolf, Matthias T.F., Wong, Sik-Nin, Poduri, Annapurna, Truglio, Gessica, Mane, Shrikant, Lifton, Richard P., Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Calleweart, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm

    Published 2017
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