Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Jiin Ying Lim"'
Autor:
Daniel Moynihan, Sean Monaco, Teck Wah Ting, Kaavya Narasimhalu, Jenny Hsieh, Sylvia Kam, Jiin Ying Lim, Weng Khong Lim, Sonia Davila, Yasmin Bylstra, Iswaree Devi Balakrishnan, Mark Heng, Elian Chia, Khung Keong Yeo, Bee Keow Goh, Ritu Gupta, Tele Tan, Gareth Baynam, Saumya Shekhar Jamuar
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Rare genetic diseases affect 5–8% of the population but are often undiagnosed or misdiagnosed. Electronic health records (EHR) contain large amounts of data, which provide opportunities for analysing and mining. Data analysis in the form o
Externí odkaz:
https://doaj.org/article/55739e925c214c15a8643ef54b81199b
Autor:
Daniel Moynihan, Sean Monaco, Teck Wah Ting, Kaavya Narasimhalu, Jenny Hsieh, Sylvia Kam, Jiin Ying Lim, Weng Khong Lim, Sonia Davila, Yasmin Bylstra, Iswaree Devi Balakrishnan, Mark Heng, Elian Chia, Khung Keong Yeo, Bee Keow Goh, Ritu Gupta, Tele Tan, Gareth Baynam, Saumya Shekhar Jamuar
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/694746cfb4a14bdd8727e0d06b011d18
Autor:
Gabrielle Stinton, Jane A. Lieviant, Sylvia Kam, Jiin Ying Lim, Jasmine Chew-Yin Goh, Weng Khong Lim, Gareth Baynam, Tele Tan, Duc-Son Pham, Saumya Shekhar Jamuar
Publikováno v:
Rare, Vol 1, Iss , Pp 100007- (2023)
Leveraging Artificial Intelligence (AI) within the rare disease diagnostic odyssey can facilitate a decrease in diagnostic times and an increase in diagnostic rates. Among the steps involved in the odyssey, this project focused on utilizing AI to aut
Externí odkaz:
https://doaj.org/article/322f328574b045dab9429b0b8a61fc93
Autor:
Rina Yue Ling Ong, Su-Wan Bianca Chan, Siu Jun Chew, Woei Kang Liew, Koh Cheng Thoon, Chia-Yin Chong, Chee Fu Yung, Li-Hwei Sng, Ah Moy Tan, Rajat Bhattacharyya, Saumya Shekhar Jamuar, Jiin Ying Lim, Jiahui Li, Karen Donceras Nadua, Kai-qian Kam, Natalie Woon-Hui Tan
Publikováno v:
International Journal of Infectious Diseases, Vol 97, Iss , Pp 117-125 (2020)
Background: Disseminated Bacillus Calmette-Guérin (BCG) disease (BCGosis) is a classical feature of children with primary immunodeficiency disorders (PIDs). Methods: A 15-year retrospective review was conducted in KK Women's and Children's Hospital
Externí odkaz:
https://doaj.org/article/a42d9819a7094fddbda0c6908ceaeb01
Autor:
Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH s
Externí odkaz:
https://doaj.org/article/669f0574667343e2aba272d086c020c6
Akademický článek
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Autor:
Nuraini Nazeha, Ai Ling Koh, Sylvia Kam, Jiin Ying Lim, Denise Li Meng Goh, Saumya Shekhar Jamuar, Nicholas Graves
Publikováno v:
American Journal of Medical Genetics Part A. 188:3482-3491
Children with genetic diseases endure a prolonged and costly "diagnostic odyssey." The use of whole exome sequencing (WES) and whole genome sequencing (WGS) has improved the diagnosis rate, ending the odyssey. However, the additional costs associated
Autor:
Thurston Yan Jia Heng, Jin Rong Ow, Ai Ling Koh, James Soon Chuan Lim, Christine Bee Keow Ong, Jasmine Chew Yin Goh, Jiin Ying Lim, Fang Kuan Chiou, Jamuar, Saumya Shekhar
Publikováno v:
Clinical Dysmorphology; Jan2024, Vol. 33 Issue 1, p43-49, 7p
Autor:
Ashley Shuen Ying Hong, Jiin Ying Lim, Mas Suhaila Isa, Wendy Kein-Meng Liew, Barrie Tan, Ching Lin Ho, Seo Wei Leo, Saumya Shekhar Jamuar
Publikováno v:
Clinical Dysmorphology.
Autor:
Melissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, Sylvia Kam, Jing Xian Teo, Jianhong Ching, Chew Yin Jasmine Goh, Saumya Shekhar Jamuar, Weng Khong Lim, Ai Ling Koh
Publikováno v:
Clinical Dysmorphology.