المؤلفون: Chan, Mei-Yan^{Aff1, IDs13023023028486_cor1}, Jalil, Julaina Abdul, Yakob, Yusnita, Wahab, Siti Aishah Abdul, Ali, Ernie Zuraida, Khalid, Mohd Khairul Nizam Mohd, Leong, Huey-Yin, Chew, Hui-Bein, Sivabalakrishnan, Jeya Bawani, Ngu, Lock-Hock

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Lim, Jing Ying, Ali, Nazlena Mohamad, Rajikan, Roslee, Amit, Noh, Hamid, Haslina Abdul, Leong, Huey Yin, Mohamad, Maslina, Koh, Bi Qi, Musa, Aini

المصدر: In International Journal of Medical Informatics September 2023 177

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المؤلفون: Leong, Huey Yin^Aff1, Abdul Azize, Nor Azimah^Aff2, Chew, Hui Bein^Aff1, Keng, Wee Teik^Aff1, Thong, Meow Keong^Aff3, Mohd Khalid, Mohd Khairul Nizam^Aff2, Hung, Liang Choo^Aff4, Mohamed Zainudin, Norzila^Aff4, Ramlee, Azura^Aff5, Md Haniffa, Muzhirah Aisha^Aff1, Yakob, Yusnita^Aff2, Ngu, Lock Hock^Aff1

المصدر: Orphanet Journal of Rare Diseases. 14(1)

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المؤلفون: Leong Huey Yin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81c5548f48882058c37441b9f7004ebb

المؤلفون: Nor Azimah Abdul Azize, Yusnita Yakob, Salina Abd Rahman, Simon E. Olpin, Vengadeshwaran Suberamaniam, Huzaimah Abdullah Sani, Anasufiza Habib, Ngu Lock-Hock, Muhammad Irfan Bukhari Ahmad Nazri, Leong Huey Yin, Gaik-Siew Ch’ng

المصدر: Clinical biochemistry. 98

مصطلحات موضوعية: Male, medicine.medical_specialty, Clinical Biochemistry, Carnitine-acylcarnitine translocase, medicine.disease_cause, Compound heterozygosity, Lipid Metabolism, Inborn Errors, Exon, Internal medicine, medicine, Transferase, Humans, Carnitine, Child, Retrospective Studies, Mutation, Splice site mutation, biology, Carnitine O-Palmitoyltransferase, business.industry, Malaysia, Membrane Transport Proteins, General Medicine, Exons, Introns, Dried blood spot, Endocrinology, Carnitine Acyltransferases, biology.protein, Female, RNA Splice Sites, business, Metabolism, Inborn Errors, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::284a58e0c160d1643a7308d1104f7828
https://pubmed.ncbi.nlm.nih.gov/34626609

المؤلفون: Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma, Guler, Serhat, Hull, Mariam, Parnes, Mered, Aktas, Dilek, Anlar, Banu, Bayram, Yavuz, Pehlivan, Davut, Posey, Jennifer E., Alavi, Shahryar, Madani Manshadi, Seyed Ali, Alzaidan, Hamad, Al-Owain, Mohammad, Alabdi, Lama, Abdulwahab, Ferdous, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Uchiyama, Yuri, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Elshafie, Reem M., Salayev, Kamran, Guliyeva, Ulviyya, Alkuraya, Fowzan S., Gleeson, Joseph G., Monaghan, Kristin G., Langley, Katherine G., Yang, Hui, Motavaf, Mahsa, Safari, Saeid, Alipour, Mozhgan, Ogata, Kazuhiro, Brown, André E.X., Lupski, James R., Houlden, Henry, Matsumoto, Naomichi

المصدر: Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p90-102, 13p