المؤلفون: Wai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C.P. Chan, Will Yap Hang Chan, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Li Li Cheung, Yiu Fai Cheung, Josephine Shuk Ching Chong, Annie Tsz Wai Chu, Claudia Ching Yan Chung, Kin Lai Chung, Cheuk Wing Fung, Eva Lai Wah Fung, Yuan Gao, Stephanie Ho, Shirley Pik Ying Hue, Chi-Ho Lee, Tsz Leung Lee, Philip Hei Li, Hei Man Lo, Ivan Fai Man Lo, Herbert Ho Fung Loong, Becky Mingyao Ma, Wei Ma, Shirley Yin Yu Pang, Wai-Kay Seto, Steven Wai Kwan Siu, Ho So, Yuk Him Tam, Wenshu Tang, Rosanna Ming Sum Wong, Desmond Yat Hin Yap, Maggie Lo Yee Yau, Brian Hon Yin Chung, Su-Vui Lo

المصدر: The Lancet Regional Health. Western Pacific, Vol 55, Iss , Pp 101473- (2025)

مصطلحات موضوعية: Genome sequencing, Short read genome sequencing, Long read genome sequencing, Hong Kong genome project, Population-based genome project, Rare disease, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666606525000100; https://doaj.org/toc/2666-6065

URL الوصول: https://doaj.org/article/4b17af3f65cd4a0798c80ede756b3c12

المؤلفون: Anselm Wang Hei Hui, MB ChB, FRCR, Maggie Lo Yee Yau, MB ChB, MRCPCH, FHKCPed, FHKAM(Ped), Eva Lai Wah Fung, MB ChB, FRCPCH, FHKCPed, FHKAM(Ped), Ka Chi Chan, MB ChB, FRCR, FHKCR, FHKAM (Radiology), Billy Ming Hei Lai, MB BS, FRCR, FHKCR, FHKAM (Radiology), Ki Wang, MB BS, FRCR, FHKCR, FHKAM (Radiology), Winnie Chiu Wing Chu, MB ChB, MD, FRCR, FHKCR, FHKAM (Radiology)

المصدر: Radiology Case Reports, Vol 18, Iss 9, Pp 3169-3174 (2023)

مصطلحات موضوعية: Pediatrics, Neuroradiology, Stroke, MRI, Vessel wall imaging, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S193004332300359X; https://doaj.org/toc/1930-0433

URL الوصول: https://doaj.org/article/59c5d853ae464a0bb04568a9b99708a1

المؤلفون: Anna Ka-Yee Kwong (9989370), Mandy Ho-Yin Tsang (9989373), Jasmine Lee-Fong Fung (9989376), Christopher Chun-Yu Mak (9989379), Kate Lok-San Chan (9989382), Richard J. T. Rodenburg (9989385), Monkol Lek (287026), Shushu Huang (1801456), Sander Pajusalu (9989388), Man-Mut Yau (9989391), Cheung Tsoi (9989394), Sharon Fung (9989397), Kam-Tim Liu (5744354), Che-Kwan Ma (9989400), Sheila Wong (9989403), Eric Kin-Cheong Yau (9989406), Shuk-Mui Tai (9989409), Eva Lai-Wah Fung (9989412), Nick Shun-Ping Wu (9989415), Li-Yan Tsung (9989418), Jan Smeitink (3455747), Brian Hon-Yin Chung (9989421), Cheuk-Wing Fung (314345)

مصطلحات موضوعية: Genetics, Molecular Biology, Neuroscience, Pharmacology, Biotechnology, Cancer, Science Policy, Mental Health, Biological Sciences not elsewhere classified, Movement disorders, Whole exome sequencing, Genetic diagnosis, Treatment

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Exome_sequencing_in_paediatric_patients_with_movement_disorders/13578936

الاتاحة: https://doi.org/10.6084/m9.figshare.13578936.v1

المؤلفون: Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Movement disorders, Whole exome sequencing, Genetic diagnosis, Treatment, Medicine

Relation: https://doi.org/10.1186/s13023-021-01688-6; https://doaj.org/toc/1750-1172; https://doaj.org/article/a75fac8f007d420a85ab11522cca237a

الاتاحة: https://doi.org/10.1186/s13023-021-01688-6
https://doaj.org/article/a75fac8f007d420a85ab11522cca237a

المؤلفون: K. W. So, Hugh Simon Lam, Hon Ming Cheung, Karen Kwan Ming Yam, Eva Lai-Wah Fung, Kathleen Tsoi, Terence Ping Yuen Ma

المصدر: American Journal of Perinatology.

مصطلحات موضوعية: medicine.medical_specialty, Neonatal intensive care unit, Quality management, medicine.diagnostic_test, Health professionals, business.industry, Obstetrics and Gynecology, Electroencephalography, Amplitude integrated electroencephalography, Primary outcome, Documentation, Pediatrics, Perinatology and Child Health, Emergency medicine, medicine, business, PDCA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf0ddcec840af33da7b0ad7fa343559
https://doi.org/10.1055/a-1677-9872

المؤلفون: Eva Lai-wah Fung, Sandy Ka-yin Chang, Karen Kwan-ming Yam, Phyllis Yin-ping Yau

المصدر: Pediatrics and Neonatology, Vol 56, Iss 6, Pp 429-431 (2015)

مصطلحات موضوعية: Pediatrics, RJ1-570

Relation: http://www.sciencedirect.com/science/article/pii/S1875957215000649; https://doaj.org/toc/1875-9572; https://doaj.org/article/b14c44d877a94c9f807347b5c5ef1f00

الاتاحة: https://doi.org/10.1016/j.pedneo.2015.01.010
https://doaj.org/article/b14c44d877a94c9f807347b5c5ef1f00

المؤلفون: Eva Lai-wah Fung, Chung-yin Mo, Sharon Tsui-Hang Fung, Anne Yin-yan Chan, Ka-yee Lau, Emily Kit-ying Chan, David Yuen-chung Chan, Xian-lun Zhu, Danny Tat-ming Chan, Wai-sang Poon

المصدر: Surgical Neurology International. 13:285

مصطلحات موضوعية: Surgery, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4a446652a9af6082ad5b082d66f99157
https://doi.org/10.25259/sni_166_2022

المؤلفون: Kam-Tim Liu, Nick Shun-Ping Wu, Kate Lok-San Chan, Man-Mut Yau, Jan A.M. Smeitink, Li-Yan Tsung, Cheung Tsoi, Christopher C.Y. Mak, Mandy H.Y. Tsang, Sheila Wong, Brian H.Y. Chung, Anna Ka-Yee Kwong, Jasmine L.F. Fung, Richard J. Rodenburg, Shuk-Mui Tai, Eva Lai-Wah Fung, Monkol Lek, Sharon T. H. Fung, Eric Kin-Cheong Yau, Shushu Huang, Cheuk-Wing Fung, Sander Pajusalu, Che-Kwan Ma

المصدر: Orphanet Journal of Rare Diseases, 16
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Orphanet Journal of Rare Diseases, 16, 1

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Deep brain stimulation, Movement disorders, Spastin, medicine.medical_treatment, lcsh:Medicine, GTP-Binding Protein alpha Subunits, Gi-Go, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, Medicine, Humans, Pharmacology (medical), Exome, Child, Genetics (clinical), Exome sequencing, Dystonia, Movement Disorders, business.industry, Research, lcsh:R, Whole exome sequencing, Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, medicine.disease, Precision medicine, Human genetics, Treatment, Dystonic Disorders, Genetic diagnosis, Cohort, Mutation, Etiology, medicine.symptom, Sodium-Potassium-Exchanging ATPase, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f826e11ecd98120aa7cf64344e958cb4
http://hdl.handle.net/2066/230163

المؤلفون: Li-Yan Tsung, Monkol Lek, Sander Pajusalu, Che-Kwan Ma, Kate Lok-San Chan, Eva Lai-Wah Fung, Cheuk-Wing Fung, Mandy H.Y. Tsang, Man-Mut Yau, Shuk-Mui Tai, Jasmine L.F. Fung, Richard J. Rodenburg, Sharon T. H. Fung, Kam-Tim Liu, Cheung Tsoi, Shushu Huang, Jan A.M. Smeitink, Nick Shun-Ping Wu, Christopher C.Y. Mak, Brian H.Y. Chung, Sheila Wong, Anna Ka-Yee Kwong, Eric Kin-Cheong Yau

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Movement disorders, business.industry, Medicine, medicine.symptom, business, Exome sequencing, Paediatric patients

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::819aafdceb3288e1b79c63f1cd713c2c
https://doi.org/10.21203/rs.3.rs-101211/v1

المؤلفون: Sheila Suet-na Wong, Kwing-wan Tsui, Eric Kin-Cheong Yau, Sophelia H. S. Chan, Eric Y. T. Chan, Sharon Wan-wah Cherk, Kam-hung Ma, Eva Lai-Wah Fung, Alvin Chi-chung Ho, Sharon T. H. Fung, Virginia Wong

المصدر: Brain and Development. 40:473-479

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Movement disorders, Adolescent, medicine.medical_treatment, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Developmental Neuroscience, 030225 pediatrics, medicine, Humans, Child, Retrospective Studies, Anti-N-Methyl-D-Aspartate Receptor Encephalitis, Autoimmune encephalitis, business.industry, Incidence, Incidence (epidemiology), Infant, Retrospective cohort study, General Medicine, medicine.disease, Treatment Outcome, Child, Preschool, Pediatrics, Perinatology and Child Health, Hong Kong, Female, Plasmapheresis, Rituximab, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Encephalitis, Follow-Up Studies, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8aa708b9f369a17ee171dabab610daa
https://doi.org/10.1016/j.braindev.2018.02.005

المؤلفون: Ching-Wan Lam, Angel Ok Chan, WL Yeung, YF Cheung, Yuet-Ping Yuen, Eva Lai-Wah Fung, CY Law, HF Chan, Joannie Hui, Iris Ok Yung

المصدر: Hong Kong Medical Journal. :619-622

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Nerve Tissue Proteins, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Family Health, business.industry, Membrane Proteins, Chorea, General Medicine, Middle Aged, Dystonia, 030104 developmental biology, Mutation, Mutation (genetic algorithm), Hong Kong, Female, medicine.symptom, business, 030217 neurology & neurosurgery, PRRT2, Familial Paroxysmal Kinesigenic Dyskinesia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13acf90e47e5c98e8f7f53e824ca838d
https://doi.org/10.12809/hkmj154579

المؤلفون: Kwan Ming Yam, Eva Lai-Wah Fung, Maggie L.Y. Yau

المصدر: Epilepsy & Behavior. 101:106806

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Status epilepticus, medicine.disease, Behavioral Neuroscience, Epilepsy, Neurology, medicine, Ketamine, Neurology (clinical), medicine.symptom, business, Super refractory, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dc7403d40d1ed1d1237558f3133eb24e
https://doi.org/10.1016/j.yebeh.2019.08.081

المؤلفون: Ferdy K. Cayami, L Gauquelin, Dagmar Timmann, Marjo S. van der Knaap, Stefano D'Arrigo, László Sztriha, Nivedita Thakur, Gessica Vasco, Geneviève Bernard, Heike Philippi, Nicole I. Wolf, Richard Webster, Bart P.C. van de Warrenburg, François Hocke, Julia Rankin, Enrico Bertini, Adeline Vanderver, Abhijit Dixit, Penny Fallon, Kara Stuart Lewis, Dmitriy Niyazov, Sébastien Fribourg, Luan T. Tran, Trine Prescott, Rosalina M. L. van Spaendonk, Michael C. Kruer, Richard E. Person, Grace Yoon, Cyril Goizet, Eva Lai-Wah Fung, Isabelle Thiffault, Davide Tonduti, Evangeline Wassmer, Suvasini Sharma, Meriel McEntagart, Kether Guerrero, Claire Searle, Ddd Study

المصدر: Neurology. Genetics, 5, 6
Neurology: Genetics
Neurology. Genetics, 5

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Medizin, Article, White matter, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, medicine, Craniofacial, Genetics (clinical), 030304 developmental biology, 0303 health sciences, business.industry, Leukodystrophy, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Hyperintensity, 3. Good health, medicine.anatomical_structure, Severe phenotype, Male patient, Cohort, Neurology (clinical), business, Treacher Collins syndrome, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3eeee784f1e83f602c5ecec093bb9d1
https://doi.org/10.1212/nxg.0000000000000369

المؤلفون: Joannie Hui, John Wong, Joerg Klepper, Eva Lai-Wah Fung, Tzi Bun Ng, Yuan Yuan Ho, Nga-Yin Fion Fong, Kwok-Wing Stephen Tsui

المصدر: Brain and Development. 33:170-173

مصطلحات موضوعية: Blood Glucose, Male, Ataxia, Deficiency syndrome, Adolescent, Monosaccharide Transport Proteins, medicine.medical_treatment, DNA Mutational Analysis, Bioinformatics, Epilepsy, Asian People, Developmental Neuroscience, Slc2a1 gene, medicine, Humans, Genetics, Glucose Transporter Type 1, Guanosine, business.industry, General Medicine, medicine.disease, Glucose, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 3-o-methyl-d-glucose, medicine.symptom, Diet, Ketogenic, business, Novel mutation, Carbohydrate Metabolism, Inborn Errors, Ketogenic diet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c7da6302c652341fe5ea280f8c77e6
https://doi.org/10.1016/j.braindev.2010.03.009

المؤلفون: Maggie L.Y. Yau, Eva Lai-Wah Fung, Pak Cheung Ng

مصطلحات موضوعية: Response rate (survey), Pediatrics, medicine.medical_specialty, business.industry, Medical record, Observational Study, medicine.disease, Intensive care unit, law.invention, Epilepsy, law, Pediatrics, Perinatology and Child Health, Etiology, Medicine, Levetiracetam, business, Adverse effect, Neonatal seizure, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62263d826b8e95a74684f27bb7aed857
https://europepmc.org/articles/PMC4526838/

المؤلفون: Eva Lai-Wah Fung, Maggie L.Y. Yau

المصدر: Hong Kong Med Journal. 19:362-364

مصطلحات موضوعية: Anti-N-Methyl-D-Aspartate Receptor Encephalitis, Pediatrics, medicine.medical_specialty, business.industry, Encephalopathy, Immunoglobulins, Intravenous, General Medicine, Anti-NMDAR Encephalitis, medicine.disease, Receptors, N-Methyl-D-Aspartate, Antibodies, Abnormal movements, Diagnosis, Differential, Treatment Outcome, Child, Preschool, Speech problems, medicine, Humans, Immunologic Factors, Female, Differential diagnosis, business, Encephalitis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fcfcc1ce673dd20c6c425862afb608e
https://doi.org/10.12809/hkmj133602

المؤلفون: Nelson L.S. Tang, Tai Fai Fok, Chung Shun Ho, Eva Lai-Wah Fung, Christopher W.K. Lam

المصدر: Pediatric Neurology. 28:24-27

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Adolescent, medicine.medical_treatment, Cerebral palsy, Central nervous system disease, Epilepsy, Asian People, Metabolic Diseases, Developmental Neuroscience, Risk Factors, Carnitine, Internal medicine, Prevalence, medicine, Humans, Child, Valproic Acid, business.industry, medicine.disease, Endocrinology, Anticonvulsant, Neurology, Concomitant, Pediatrics, Perinatology and Child Health, Anticonvulsants, Female, Neurology (clinical), business, Body mass index, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8bea6df526e7e899b8c81b713b9db53
https://doi.org/10.1016/s0887-8994(02)00460-5

المؤلفون: Dagmar Timmann, Kether Guerrero, Geneviève Bernard, Eva Lai-Wah Fung, Marjo S. van der Knaap, Bart P.C. van de Warrenburg, Cyril Goizet, Ryan J. Taft, Diane Forget, Isabelle Thiffault, Nicole I. Wolf, Adeline Vanderver, Jürgen Seeger, Karine Choquet, Sébastien Fribourg, Cas Simons, Alíz Zimmermann, John R. Yates, Grace Yoon, László Sztriha, Bernard Brais, Richard Webster, Adrienn Máté, Mathieu Lavallée-Adam, Luan T. Tran, Benoit Coulombe, Christian Poitras

المساهمون: Other departments, Pediatric surgery, NCA - Brain mechanisms in health and disease, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease

المصدر: Thiffault, I, Wolf, N I, Forget, D, Guerrero, K, Tran, L T, Choquet, K, Lavalleee-Adam, M, Poitras, C, Brais, B, Yoon, G, Sztriha, L, Webster, R I, Timmann, D, de Warrenburg, B P V, Seeger, J, Zimmermann, A, Mate, A, Goizet, C, Fung, E, van der Knaap, M S, Fribourg, S, Vanderver, A, Simons, C, Taft, R J, Yates, J R, Coulombe, B & Bernard, G 2015, ' Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III ', Nature Communications, vol. 6, 7623 . https://doi.org/10.1038/ncomms8623
Nature communications, 6. Nature Publishing Group
Nature Communications, 6, pp. 7623
Nature Communications, 6:7623. Nature Publishing Group
Nature Communications
Nature Communications, 6, 7623

مصطلحات موضوعية: Protein subunit, Medizin, General Physics and Astronomy, Genes, Recessive, Biology, medicine.disease_cause, Gene Expression Regulation, Enzymologic, Article, General Biochemistry, Genetics and Molecular Biology, RNA polymerase III, SDG 3 - Good Health and Well-being, medicine, Humans, Genetic Predisposition to Disease, Gene, Polymerase, Regulation of gene expression, Genetics, Mutation, Multidisciplinary, Homozygote, Leukodystrophy, RNA Polymerase III, RNA, DNA-Directed RNA Polymerases, General Chemistry, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Molecular biology, 3. Good health, Hereditary Central Nervous System Demyelinating Diseases, biology.protein

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20af0c372bcfc097be2e7c0f7c3a55b2
https://research.vumc.nl/en/publications/ea7a30d9-11fb-4fca-814f-3a1ef546bb03

المؤلفون: Lilian Li-Yan Tsung, Eva Lai-Wah Fung, Russell C. Dale

المصدر: Developmental Medicine & Child Neurology. 54:45-47

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neuromyelitis optica, business.industry, Area postrema, Autoantibody, Anorexia, medicine.disease, Spinal cord, Transverse myelitis, Aquaporin 4, medicine.anatomical_structure, Developmental Neuroscience, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Brainstem, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b957b705dd39f8d0e833eda2502d853b
https://doi.org/10.1111/j.1469-8749.2011.04099.x

المؤلفون: Lai Ping Lee, Joseph Lau, Kit Yu Li, Chak Man Yu, Pauline Pui Yee Mak, Eva Lai Wah Fung, Philomena Wan Ting Tse, Winnie K.L. Yam, Wai Man But, Chun Bong Chow

المصدر: Down Syndrome Research and Practice. 12:138-140

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Down syndrome, Future studies, Adolescent, Adult population, Hospital records, Young Adult, Heart disorder, Gastrointestinal problems, medicine, Humans, Child, Psychiatry, Incidence (epidemiology), Infant, General Medicine, medicine.disease, Health Surveys, Endocrine problems, Cross-Sectional Studies, Child, Preschool, Hong Kong, Female, Down Syndrome, Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ace4892c5ccba7370e63d6b6287ea7ae
https://doi.org/10.3104/reports.2005