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1دورية أكاديمية
المؤلفون: Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Futoshi Sekiguchi, Satomi Mitsuhashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kohei Yamada, Masamune Sakamoto, Hiromi Fukuda, Sachiko Ohori, Ken Saida, Toshiyuki Itai, Yoshiteru Azuma, Eriko Koshimizu, Atsushi Fujita, Biray Erturk, Yoko Hiraki, Gaik-Siew Ch’ng, Mitsuhiro Kato, Nobuhiko Okamoto, Atsushi Takata, Naomichi Matsumoto
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)
مصطلحات موضوعية: Neurodevelopmental disorder, Intellectual disability, Epileptic encephalopathy, Autism spectrum disorder, Rare disease, De novo variant, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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2دورية أكاديمية
المؤلفون: Eva Bagyinszky, Gaik-Siew Ch’ng, Mei-Yan Chan, Seong Soo A. An, SangYun Kim
المصدر: Brain Sciences, Vol 11, Iss 10, p 1328 (2021)
مصطلحات موضوعية: Alzheimer’s disease, mutation, whole-exome sequencing, presenilin1, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Gaik Siew Ch’ng, Karina Koh, Azlina Ahmad-Annuar, Fahisham Taib, Cha Ling Koh, Edmund Soon Chin Lim
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Spinal muscular atrophy, Malaysia, Persons with spinal muscular atrophy, Caregiver, Neuromuscular disorder, Progressive muscle weakness, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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4
المؤلفون: Ming‐Ping Ang, Seoh‐Leng Yeoh, Choo‐Hau Lim, Siah‐Li Foo, Yong‐Wee Wong, Gaik‐Siew Ch'ng
المصدر: British Journal of Haematology. 199:765-767
مصطلحات موضوعية: Hematology
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5
المؤلفون: Ezyana Effandie, Gaik-Siew Ch’ng, Malisa Ami, Faizah Mohd Zaki, Adibah Abdul Ghafar, Sau Wei Wong
المصدر: British Paediatric Neurology Association.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3e8fc1b45f3cd4011a0b93a3c3c48077
https://doi.org/10.1136/archdischild-2022-rcpch.352 -
6
المؤلفون: Jamil Omar, Mohamad Nasir Shafiee, Meow-Keong Thong, Daren C Y Teoh, Zatul Akmar Ahmad, Chun Sen Lim, Joanna Lim, Nellie Cheah, Angela George, Joseph K Joseph, Yeung Sing Chin, Soo-Hwang Teo, Doris S Y Chow, Badrul Zaman Abdullah, Eveline M. A. Bleiker, Boom Ping Khoo, Shahila Tayib, Teck Sin Tan, Suguna Subramaniam, Chee Kin Fong, Matin Mellor Abdullah, Soo Fan Ang, Yoke Ching Foo, John Low, Rakesh Raman, Yin Ling Woo, Kwong Sheng Loo, Siu Wan Wong, Ahmad Muzamir Ahmad Mustafa, Keng Joo Lim Lim, Sook-Yee Yoon, Nor Huda Mat Ali, Kean Fatt Ho, Kavitha Rethanavelu, Pei Jye Voon, Nur Tiara Hassan, Syuhada Ahmad, Ismail Aliyas, Beng Hock Teh, Mohd Pazudin Ismail, Heamanthaa Padmanabhan, Ileena Muin, Ghazali Ismail, Mastura Md Yusof, Chee Meng Yong, Muzhirah Haniffa, Azura Deniel, Mary Makanjang, Mohamad Faiz Mohamed Jamli, Rozita Abdul Malik, Noor Azmi Mat Adenan, Eunice S E Ong, Lye-Mun Tho, Anuradha Suberamaniam, Lip Hen Moey, Chui Ling Lee, Fuad Ismail, Winnie Peitee Ong, Vickneswaren Ramasamy, Arivendran Raja, Shao Yan Lau, Saw Joo Lee, Zarina Abdul Latiff, Boon Kiong Lim, Suresh Kumarasamy, Wee Teik Keng, Kin Wah Leong, Wee Wee Sim, Swee Kiong Kho, Gwo Fuang Ho, Azura Rozila Ahmad, Paul Hock Oon Ng, Mohd Norazam Mohd Abas, Mohd Rushdan Md Noor, A. B.Ahmad Radzi, Shivaani Mariapun, Gaik-Siew Ch'ng, Michael C K Lim
المصدر: Journal of Medical Genetics. 59:220-229
مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Genetic counseling, Health services research, Health literacy, Mainstreaming, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Patient satisfaction, 030220 oncology & carcinogenesis, Internal medicine, Genetics, medicine, Observational study, business, Psychosocial, Genetics (clinical), Genetic testing
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7دورية أكاديمية
المؤلفون: Abdul Rahman Ramdzan, Mohd Rizal Abdul Manaf, Azimatun Noor Aizuddin, Zarina A. Latiff, Keng Wee Teik, Gaik-Siew Ch'ng, Kurubaran Ganasegeran, Syed Mohamed Aljunid
المصدر: MDPI, IJERPH. 18(16):1-17
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8دورية أكاديمية
المؤلفون: Tohyama, JunAff1, Aff2, Nakashima, Mitsuko, Nabatame, Shin, Gaik-Siew, Ch'ng, Miyata, Rie, Rener-Primec, Zvonka, Kato, Mitsuhiro, Matsumoto, Naomichi, Saitsu, Hirotomo
المصدر: Journal of Human Genetics. 60(4):167-173
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9
المؤلفون: Gaik-Siew Ch'ng, Seong Soo A. An, Mei-Yan Chan, SangYun Kim, Eva Bagyinszky
المصدر: Brain Sciences, Vol 11, Iss 1328, p 1328 (2021)
Brain Sciencesمصطلحات موضوعية: Genetics, presenilin1, General Neuroscience, In silico, Case Report, Neurosciences. Biological psychiatry. Neuropsychiatry, Disease, Biology, Presenilin, Transmembrane domain, Mutation (genetic algorithm), PSEN1, whole-exome sequencing, mutation, Gene, Alzheimer’s disease, Exome sequencing, RC321-571
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10
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