檢索結果 - Ch'ng Gaik-Siew

  • Showing 1 - 11 results of 11
Refine Results
  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 由 Ch’ng, Gaik-Siew, An, Seong Soo A, Bae, Sun Oh, Bagyinszky, Eva, Kim, SangYun

    出版 2015
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  2. 2
    A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family

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

    出版 2021
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 Ch’ng, Gaik Siew, Koh, Karina, Ahmad-Annuar, Azlina, Taib, Fahisham, Koh, Cha Ling, Lim, Edmund Soon Chin

    出版 2022
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  4. 4
    SPTAN1 encephalopathy: distinct phenotypes and genotypes

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

    出版 2015
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  5. 5
    Cost-Effectiveness of Colorectal Cancer Genetic Testing

    Cost-Effectiveness of Colorectal Cancer Genetic Testing 由 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

    出版 2021
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2015
    獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  7. 7
    PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy

    PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy 由 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

    出版 2018
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  8. 8
    Expanding the Genetic and Phenotypic Spectrum of Popliteal Pterygium Disorders

    Expanding the Genetic and Phenotypic Spectrum of Popliteal Pterygium Disorders 由 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.

    出版 2015
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2020
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2022
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:
  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 由 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

    出版 2017
    獲取全文 獲取全文 獲取全文
    Text
    加到收藏夾
    Saved in:

檢索工具: