Resultados de procura - 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 por Ch’ng, Gaik-Siew, An, Seong Soo A, Bae, Sun Oh, Bagyinszky, Eva, Kim, SangYun

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

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

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

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

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

    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
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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 por 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

    Publicado 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 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
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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 por 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.

    Publicado 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 por 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

    Publicado 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 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
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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 por 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

    Publicado 2017
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