Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures von Nakashima, Mitsuko, Tohyama, Jun, Nakagawa, Eiji, Watanabe, Yoshihiro, Siew, Ch'ng Gaik, Kwong, Chieng Siik, Yamoto, Kaori, Hiraide, Takuya, Fukuda, Tokiko, Kaname, Tadashi, Nakabayashi, Kazuhiko, Hata, Kenichiro, Ogata, Tsutomu, Saitsu, Hirotomo, Matsumoto, Naomichi

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Maternal gonosomal mosaicism in rare autosomal dominant SLFN14‐related thrombocytopenia von Ang, Ming‐Ping, Yeoh, Seoh‐Leng, Lim, Choo‐Hau, Foo, Siah‐Li, Wong, Yong‐Wee, Ch'ng, Gaik‐Siew

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De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy von 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

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Cost-Effectiveness of Colorectal Cancer Genetic Testing von 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

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PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy von 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

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Genetic Testing for Cancer Risk: Is the Community Willing to Pay for It? von Aizuddin, Azimatun Noor, Ramdzan, Abdul Rahman, Syed Omar, Sharifah Azween, Mahmud, Zuria, Latiff, Zarina A., Amat, Salleh, Teik, Keng Wee, Siew, Ch’ng Gaik, Rais, Haniza, Aljunid, Syed Mohamed

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Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders von 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., M. Hoogeboom, A. Jeannette, Dunnwald, Martine, Kapoor, Seema, Jiramongkolchai, Pawina, Standley, Jennifer, Manak, J. Robert, Murray, Jeffrey C., Dixon, Michael J.

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Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma von Mohd Khalid, Mohd Khairul Nizam, Yakob, Yusnita, Md Yasin, Rohani, Wee Teik, Keng, Siew, Ch'ng Gaik, Rahmat, Jamalia, Ramasamy, Sunder, Alagaratnam, Joseph

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Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia von Habib, Anasufiza, Azize, Nor Azimah Abdul, Rahman, Salina Abd, Yakob, Yusnita, Suberamaniam, Vengadeshwaran, Nazri, Muhammad Irfan Bukhari Ahmad, Abdullah Sani, Huzaimah, Ch'ng, Gaik-Siew, Yin, Leong Huey, Olpin, Simon, Lock-Hock, Ngu

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Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance von Habib, Anasufiza, Md Yunus, Zabedah, Azize, Nor Azimah, Ch’ng, Gaik-Siew, Ong, Winnie PeiTee, Chen, Bee-Chin, Hsu, Ho-Torng, Wong, Ke-Juin, Pitt, James, Ngu, Lock-Hock

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

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

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms von Kaur, Maninder, Blair, Justin, Devkota, Batsal, Fortunato, Sierra, Clark, Dinah, Lawrence, Audrey, Kim, Jiwoo, Do, Wonwook, Semeo, Benjamin, Katz, Olivia, Mehta, Devanshi, Yamamoto, Nobuko, Schindler, Emma, Al Rawi, Zayd, Wallace, Nina, Wilde, Jonathan J., McCallum, Jennifer, Liu, Jinglan, Xu, Dongbin, Jackson, Marie, Rentas, Stefan, Tayoun, Ahmad Abou, Zhe, Zhang, Abdul‐Rahman, Omar, Allen, Bill, Angula, Moris A., Anyane‐Yeboa, Kwame, Argente, Jesús, Arn, Pamela H., Armstrong, Linlea, Basel‐Salmon, Lina, Baynam, Gareth, Bird, Lynne M., Bruegger, Daniel, Ch'ng, Gaik‐Siew, Chitayat, David, Clark, Robin, Cox, Gerald F., Dave, Usha, DeBaere, Elfrede, Field, Michael, Graham Jr, John M., Gripp, Karen W., Greenstein, Robert, Gupta, Neerja, Heidenreich, Randy, Hoffman, Jodi, Hopkin, Robert J., Jones, Kenneth L., Jones, Marilyn C., Kariminejad, Ariana, Kogan, Jillene, Lace, Baiba, Leroy, Julian, Lynch, Sally Ann, McDonald, Marie, Meagher, Kirsten, Mendelsohn, Nancy, Micule, Ieva, Moeschler, John, Nampoothiri, Sheela, Ohashi, Kaoru, Powell, Cynthia M., Ramanathan, Subhadra, Raskin, Salmo, Roeder, Elizabeth, Rio, Marlene, Rope, Alan F., Sangha, Karan, Scheuerle, Angela E., Schneider, Adele, Shalev, Stavit, Siu, Victoria, Smith, Rosemarie, Stevens, Cathy, Tkemaladze, Tinatin, Toimie, John, Toriello, Helga, Turner, Anne, Wheeler, Patricia G., White, Susan M., Young, Terri, Loomes, Kathleen M., Pipan, Mary, Harrington, Ann Tokay, Zackai, Elaine, Rajagopalan, Ramakrishnan, Conlin, Laura, Deardorff, Matthew A., McEldrew, Deborah, Pie, Juan, Ramos, Feliciano, Musio, Antonio, Kline, Antonie D., Izumi, Kosuke, Raible, Sarah E., Krantz, Ian D.

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

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

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

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P2‐118: A PATHOGENIC PRESENILIN‐1 VAL96PHE MUTATION FROM A MALAYSIAN FAMILY von Bagyinszky, Eva, Ch'ng, Gaik-Siew, Shim, Kyu Hwan, An, Seong Soo, Kim, SangYun

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P4‐039: APP, PSEN1, AND PSEN2 MUTATIONS IN EARLY‐ONSET ALZHEIMER'S DISEASE DISCOVERED IN ASIAN COUNTRIES: A GENETIC SCREENING STUDY OF FAMILIAL AND SPORADIC CASES von Van Vo, Giau, Ch'ng, Gaik-Siew, Senanarong, Vorapun, Antonio, D. Ligsay, Shim, Kyu Hwan, Jamerlan, Angelo, Seo, Eunhye, Bagyinszky, Eva, Park, Young-Ho, An, Seong Soo, Kim, SangYun

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P3‐015: Novel PSEN1 mutation (E280K) in a malaysian family von Bagyinszky, Eva, Ch'ng, Gaik-Siew, Bae, SeunOh, Youn, Young Chul, An, Seong Soo, Kim, SangYun

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Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly von 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

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