Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant
Garg, Abhimanyu, Keng, Wee-Teik, Chen, Zhenkang, Sathe, Adwait Amod, Xing, Chao, Kailasam, Pavithira Devi, Shao, Yanqiu, Lesner, Nicholas P, Llamas, Claire B, Agarwal, Anil K, Mishra, Prashant
Published in The Journal of clinical investigation (01.12.2022)
Published in The Journal of clinical investigation (01.12.2022)
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Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low‐to‐middle income Asian country
Lee, Yong‐Quan, Yoon, Sook‐Yee, Hassan, Tiara, Padmanabhan, Heamanthaa, Yip, Cheng‐Har, Keng, Wee‐Teik, Thong, Meow‐Keong, Ahmad Annuar, Muhammad Azrif, Mohd Taib, Nur Aishah, Teo, Soo‐Hwang
Published in Journal of genetic counseling (01.10.2022)
Published in Journal of genetic counseling (01.10.2022)
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Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features
Kameyama, Shinichi, Mizuguchi, Takeshi, Fukuda, Hiromi, Moey, Lip Hen, Keng, Wee Teik, Okamoto, Nobuhiko, Tsuchida, Naomi, Uchiyama, Yuri, Koshimizu, Eriko, Hamanaka, Kohei, Fujita, Atsushi, Miyatake, Satoko, Matsumoto, Naomichi
Published in Journal of human genetics (01.03.2022)
Published in Journal of human genetics (01.03.2022)
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Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
Williamson, Kathleen A., Hever, Ann M., Rainger, Joe, Rogers, R. Curtis, Magee, Alex, Fiedler, Zdenek, Keng, Wee Teik, Sharkey, Freddie H., McGill, Niolette, Hill, Clare J., Schneider, Adele, Messina, Mario, Turnpenny, Peter D., Fantes, Judy A., van Heyningen, Veronica, FitzPatrick, David R.
Published in Human molecular genetics (01.05.2006)
Published in Human molecular genetics (01.05.2006)
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Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver Failure
Balasubramaniam, S, Wamelink, Mirjam MC, Ngu, Lock‐Hock, Talib, Arni, Salomons, Gajja S, Jakobs, Cornelis, Keng, Wee‐Teik
Published in Journal of pediatric gastroenterology and nutrition (01.01.2011)
Published in Journal of pediatric gastroenterology and nutrition (01.01.2011)
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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
Hall, Hildegard Nikki, Bengani, Hemant, Hufnagel, Robert B, Damante, Giuseppe, Ansari, Morad, Marsh, Joseph A, Grimes, Graeme R, Kriegsheim, Alex von, Moore, David, McKie, Lisa, Rahmat, Jamalia, Mio, Catia, Blyth, Moira, Keng, Wee Teik, Islam, Lily, McEntargart, Meriel, Mannens, Marcel M, Heyningen, Veronica Van, Rainger, Joe, Brooks, Brian P, FitzPatrick, David R
Published in PloS one (22.11.2022)
Published in PloS one (22.11.2022)
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Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges
Yunus, Zabedah Md, Rahman, Salina Abdul, Choy, Yew Sing, Keng, Wee Teik, Ngu, Lock Hock
Published in Journal of Pediatric Endocrinology & Metabolism (01.09.2016)
Published in Journal of Pediatric Endocrinology & Metabolism (01.09.2016)
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Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1
Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck‐Martins, Carlos Eduardo, Carvalho, Daniel Rocha, Rizzo, Isabela Maria Pinto Oliveira, Mello, Walquiria Domingues, Heiner‐Fokkema, Rebecca, Gorman, Kathleen, Grunewald, Stephanie, Michelakakis, Helen, Moraitou, Marina, Martinelli, Diego, Scherpenzeel, Monique, Janssen, Mirian, Boer, Lonneke, Heuvel, Lambertus P., Thiel, Christian, Lefeber, Dirk J.
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
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Genetic Testing for Cancer Risk: Is the Community Willing to Pay for It?
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
Published in International journal of environmental research and public health (19.08.2021)
Published in International journal of environmental research and public health (19.08.2021)
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Cost-Effectiveness of Colorectal Cancer Genetic Testing
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 in International journal of environmental research and public health (06.08.2021)
Published in International journal of environmental research and public health (06.08.2021)
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Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study
Leong, Huey Yin, Abdul Azize, Nor Azimah, Chew, Hui Bein, Keng, Wee Teik, Thong, Meow Keong, Mohd Khalid, Mohd Khairul Nizam, Hung, Liang Choo, Mohamed Zainudin, Norzila, Ramlee, Azura, Md Haniffa, Muzhirah Aisha, Yakob, Yusnita, Ngu, Lock Hock
Published in Orphanet journal of rare diseases (14.06.2019)
Published in Orphanet journal of rare diseases (14.06.2019)
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Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma
Mohd Khalid, Mohd Khairul Nizam, Yakob, Yusnita, Md Yasin, Rohani, Wee Teik, Keng, Siew, Ch'ng Gaik, Rahmat, Jamalia, Ramasamy, Sunder, Alagaratnam, Joseph
Published in Molecular vision (14.10.2015)
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Published in Molecular vision (14.10.2015)
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Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients
Moey, Lip Hen, Abdul Azize, Nor Azimah, Yakob, Yusnita, Leong, Huey Yin, Keng, Wee Teik, Chen, Bee Chin, Ngu, Lock Hock
Published in Pediatrics and neonatology (01.08.2018)
Published in Pediatrics and neonatology (01.08.2018)
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Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype
Dutrannoy, Véronique, Demuth, Ilja, Baumann, Ulrich, Schindler, Detlev, Konrat, Kateryna, Neitzel, Heidemarie, Gillessen-Kaesbach, Gabriele, Radszewski, Janina, Rothe, Susanne, Schellenberger, Mario T, Nürnberg, Gudrun, Nürnberg, Peter, Teik, Keng Wee, Nallusamy, Revathy, Reis, André, Sperling, Karl, Digweed, Martin, Varon, Raymonda
Published in Human mutation (01.09.2010)
Published in Human mutation (01.09.2010)
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Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability
Ali, E Z, Yakob, Y, Md Desa, N, Ishak, T, Zakaria, Z, Ngu, L K, Keng, W T
Published in Malaysian journal of pathology (01.08.2017)
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Published in Malaysian journal of pathology (01.08.2017)
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Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome
Ismail, Nur Farrah Dila, Nik Abdul Malik, Nik Mohd Ariff, Mohseni, Jafar, Rani, Abdulqawee Mahyoob, Hayati, Fatemeh, Salmi, Abdul Razak, Narazah, Mohd Yusof, Zabidi-Hussin, Z.A.M.H., Silawati, Abdul Rashid, Keng, Wee Teik, Ngu, Lock Hock, Sasongko, Teguh Haryo
Published in Japanese journal of clinical oncology (01.05.2014)
Published in Japanese journal of clinical oncology (01.05.2014)
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Mutational Analyses on X-Linked Adrenoleukodystrophy Reveal a Novel Cryptic Splicing and Three Missense Mutations in the ABCD1 Gene
Hung, Kun-Long, MD, Wang, Jinn-Shyan, PhD, Keng, Wee Teik, MD, Chen, Hui-Ju, MD, Liang, Jao-Shwann, MD, Ngu, Lock Hock, MD, Lu, Jyh-Feng, PhD
Published in Pediatric neurology (01.09.2013)
Published in Pediatric neurology (01.09.2013)
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Journal Article
Mutations in SOX2 cause anophthalmia–esophageal–genital (AEG) syndrome
Williamson, Kathleen A., Hever, Ann M., Rainger, Joe, Rogers, R. Curtis, Magee, Alex, Fiedler, Zdenek, Keng, Wee Teik, Sharkey, Freddie H., McGill, Niolette, Hill, Clare J., Schneider, Adele, Messina, Mario, Turnpenny, Peter D., Fantes, Judy A., van Heyningen, Veronica, FitzPatrick, David R.
Published in Human molecular genetics (15.06.2006)
Published in Human molecular genetics (15.06.2006)
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Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics
Liang, Jao-Shwann, Hung, Kun-Long, Lin, Li-Ju, Ong, Winnie Peitee, Keng, Wee Teik, Lu, Jyh-Feng
Published in Epilepsy & behavior (01.08.2023)
Published in Epilepsy & behavior (01.08.2023)
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