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

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Acid alpha-glucosidase, Enzyme replacement therapy, GAA, Infantile-onset Pompe disease, Lysosomal storage disease, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4d80c9ff956948ffb92f6bbfcbd5b9cb

المؤلفون: Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu

المصدر: Genetics Research, Vol 2022 (2022)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1469-5073

URL الوصول: https://doaj.org/article/22f071b3008a432793afed0b343a722e

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

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Natural history, Diagnosis, Mucopolysaccharidosis IVA, GALNS, Malaysia, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1105-6; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/3ceceb60b033493d83a1a1fe11a77f3f

المؤلفون: M. Mardhiah, Nor Azimah Abdul Azize, Yusnita Yakob, O. Affandi, Ngu Lock Hock, M.R. Rowani, Anasufiza Habib

المصدر: Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426919300965; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/e9ed4e87957142ccac1218cc00e2089a

المؤلفون: Lip Hen Moey, Nor Azimah Abdul Azize, Yusnita Yakob, Huey Yin Leong, Wee Teik Keng, Bee Chin Chen, Lock Hock Ngu

المصدر: Pediatrics and Neonatology, Vol 59, Iss 4, Pp 397-403 (2018)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1875957216303783; https://doaj.org/toc/1875-9572

URL الوصول: https://doaj.org/article/282a9eb66cab47bb9e181f0db23b8c83

المؤلفون: Ernie Zuraida Ali, Yusnita Yakob, Lock Hock Ngu

المصدر: Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442691930120X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/190bc385ad804b62b5f4cc326f6514a2

المؤلفون: Hiew Fu Liong, Siti Aishah Abdul Wahab, Yusnita Yakob, Ngu Lock Hock, Wong Kum Thong, Shanthi Viswanathan

المصدر: Case Reports in Neurological Medicine, Vol 2014 (2014)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6668; https://doaj.org/toc/2090-6676

URL الوصول: https://doaj.org/article/d345709cc2994c4185d1e8d7aa9b008f

المؤلفون: Yusnita Yakob, Keng Wee Teik, Muzhirah Haniffa, Ch'ng Gaik Siew, Siti Aishah Abdul Wahab, Winnie Ong Peitee

المصدر: Malaysian Journal of Paediatrics and Child Health. 27:23-27

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Birth weight, Intrauterine growth restriction, Bone age, medicine.disease, Short stature, SHORT syndrome, Failure to thrive, medicine, medicine.symptom, Differential diagnosis, Lipodystrophy, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5ae5ace682ba2929da4ba56d1e5d677f
https://doi.org/10.51407/mjpch.v27i2.144

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::19ad3df090d36fa306fa3291df3f6890
https://doi.org/10.21203/rs.3.rs-1721748/v1

المؤلفون: Kok Joo Chan, Meow-Keong Thong, Anna Marie Nathan, Surendran Thavagnanam, Yusnita Yakob, Chin Seng Gan

المصدر: Annals of the Academy of Medicine, Singapore. 51:651-652

مصطلحات موضوعية: Humans, General Medicine, Child, Lung Diseases, Interstitial

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d2d3e0bce14bb7e1d9ea67f2fa1f5b
https://doi.org/10.47102/annals-acadmedsg.202257

المؤلفون: Mohammad Hafiz Abdul Rahim, Zainul Amiruddin Zakaria, Mohd Hijaz Mohd Sani, Maizatul Hasyima Omar, Yusnita Yakob, Manraj Singh Cheema, Siew Mooi Ching, Zuraini Ahmad, Arifah Abdul Kadir

المصدر: Evidence-Based Complementary and Alternative Medicine, Vol 2016 (2016)

مصطلحات موضوعية: Other systems of medicine, RZ201-999

Relation: http://dx.doi.org/10.1155/2016/1494981; https://doaj.org/toc/1741-427X; https://doaj.org/toc/1741-4288; https://doaj.org/article/bb356b06c13a419f802efc59bbd75da7

الاتاحة: https://doi.org/10.1155/2016/1494981
https://doaj.org/article/bb356b06c13a419f802efc59bbd75da7

المؤلفون: Siti Aishah Abdul Wahab, Yusnita Yakob, Nor Azimah Abdul Azize, Zabedah Md Yunus, Leong Huey Yin, Mohd Khairul Nizam Mohd Khalid, Ngu Lock Hock

المصدر: BioMed Research International, Vol 2016 (2016)

مصطلحات موضوعية: Medicine

Relation: http://dx.doi.org/10.1155/2016/4074365; https://doaj.org/toc/2314-6133; https://doaj.org/toc/2314-6141; https://doaj.org/article/6d4d86bbf45f4ae9bb988076e1d4b49d

الاتاحة: https://doi.org/10.1155/2016/4074365
https://doaj.org/article/6d4d86bbf45f4ae9bb988076e1d4b49d

المؤلفون: Fatimah Diana Amin Nordin, Affandi Omar, Nor Azimah Abdul Azize, Norashareena Mohamed Shakrin, R. Mohamed, Sofwatul Mukhtaroh Nasohah, Seok Hian Lua, Julaina Abdul Jalil, Nor Shuhaili Salleh, Siti Aishah Abdul Wahab, Yusnita Yakob

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Epidemiology, Lysosomal storage disease, Medicine, business, medicine.disease, Virology, Genotyping

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::044dddb1126eca57932f24942d257949
https://doi.org/10.21203/rs.3.rs-757575/v1

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: Anna Marie Nathan, Kok Joo Chan, Chin Gan, Meow-Keong Thong, Surendran Thavagnanam, Yusnita Yakob

مصطلحات موضوعية: Neonatal respiratory distress syndrome, education.field_of_study, Pediatrics, medicine.medical_specialty, biology, Respiratory distress, business.industry, Genetic counseling, Population, Interstitial lung disease, ABCA3, Gene mutation, medicine.disease, Compound heterozygosity, biology.protein, Medicine, business, education

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::18299a0bdee26567a70361518cb48950
https://doi.org/10.22541/au.159795433.34268142

المؤلفون: Santhi Datuk Puvanarajah, Elena A.B. Azizan, Yue Hui Lau, Long Kha Chin, Bart P.C. van de Warrenburg, Siti Hajar Md Desa, Shahrul Azmin Md. Rani, Norlinah Mohamed Ibrahim, Noorasyikin Ariffin, Yusnita Yakob

المصدر: Cerebellum & Ataxias, 7
Cerebellum & Ataxias, Vol 7, Iss 1, Pp 1-4 (2020)
Cerebellum & Ataxias

مصطلحات موضوعية: medicine.medical_specialty, Spinocerebellar Ataxia Type 1, Ataxia, Neurology, Disease, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Pooled data, 030212 general & internal medicine, Family history, Letter to the Editor, lcsh:Neurology. Diseases of the nervous system, reproductive and urinary physiology, Genetic testing, medicine.diagnostic_test, business.industry, hemic and immune systems, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Spinocerebellar ataxia, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d9215fe94687598362aa8619bbc82b3
https://hdl.handle.net/2066/224916

المؤلفون: M.R. Rowani, Yusnita Yakob, O. Affandi, Anasufiza Habib, Nor Azimah Abdul Azize, Ngu Lock Hock, M. Mardhiah

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)

مصطلحات موضوعية: Newborn screening, medicine.medical_specialty, Ataxia, Biotin, Case Report, Compound heterozygosity, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, Acylcarnitine, 0302 clinical medicine, Endocrinology, Internal medicine, Genetics, medicine, Biotinidase activity, lcsh:QH301-705.5, Molecular Biology, lcsh:R5-920, 0303 health sciences, business.industry, Biotinidase deficiency, 030305 genetics & heredity, medicine.disease, Hypotonia, lcsh:Biology (General), chemistry, Mutation, Biotinidase, medicine.symptom, lcsh:Medicine (General), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb746dfb74b0ea4af586e1b65c9e02e3
http://europepmc.org/articles/PMC7144277

المؤلفون: Julaina Abdul Jalil, Siti Mastura Abdul Aziz, Nor Aina Mohamad Bakri, Siti Nurwani Ahmad Ridzuan, Mohd Khairul Nizam Mohd Khalid, Anasufiza Habib, Yusnita Yakob, Fatimah Diana Amin Nordin

المصدر: Journal of Clinical Laboratory Analysis

مصطلحات موضوعية: 0301 basic medicine, Microbiology (medical), serum protein electrophoresis, Coefficient of variation, Clinical Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Immunology and Allergy, Humans, Immunoelectrophoresis, Research Articles, Automation, Laboratory, Reproducibility, serum monoclonal protein, Chromatography, medicine.diagnostic_test, Chemistry, Biochemistry (medical), Public Health, Environmental and Occupational Health, Reproducibility of Results, Hematology, Repeatability, Blood Proteins, Immunofixation electrophoresis, Blood Protein Electrophoresis, immunofixation electrophoresis, Medical Laboratory Technology, HYDRASYS 2 SCAN, 030104 developmental biology, Myeloma Proteins, EasyFix G26, 030220 oncology & carcinogenesis, Performance comparison, Serum protein electrophoresis, Monoclonal, Agarose, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e49f0cd346267547b65183d3f581ca6d
https://pubmed.ncbi.nlm.nih.gov/32141626

المؤلفون: Leong, Huey, Nor Abdul Azize, Chew, Hui, Wee Keng, Meow Thong, Mohd Mohd Khalid, Hung, Liang, Norzila Mohamed Zainudin, Azura Ramlee, Muzhirah Md Haniffa, Yusnita Yakob, Lock Ngu

مصطلحات موضوعية: parasitic diseases, sense organs

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b95511e9260e10da15488beb4396511c

المؤلفون: Putri Yubbu, Seok Hian Lua, Hui Bein Chew, Yusnita Yakob, Hasri Samion

المصدر: Journal of Rare Cardiovascular Diseases. 4

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Long QT syndrome, Timothy syndrome, medicine.disease, QT interval, Internal medicine, Cardiology, Medicine, cardiovascular diseases, Syndactyly, Cardiology and Cardiovascular Medicine, business, Atrioventricular block, Electrocardiography, Tetralogy of Fallot, Cause of death

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0657f06f41384e896d4f2faa82b0def6
https://doi.org/10.20418/jrcd.vol4no2.361