المؤلفون: Chan, Mei-Yan, 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 ; volume 18, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-023-02848-6
https://link.springer.com/content/pdf/10.1186/s13023-023-02848-6.pdf
https://link.springer.com/article/10.1186/s13023-023-02848-6/fulltext.html

المؤلفون: Courage, Carolina, Oliver, Karen L., Park, Eon Joo, Cameron, Jillian M., Grabinska, Kariona A., Muona, Mikko, Canafoglia, Laura, Gambardella, Antonio, Said, Edith, Afawi, Zaid, Baykan, Betul, Brandt, Christian, di Bonaventura, Carlo, Chew, Hui Bein, Criscuolo, Chiara, Dibbens, Leanne M., Castellotti, Barbara, Riguzzi, Patrizia, Labate, Angelo, Filla, Alessandro, Giallonardo, Anna T., Berecki, Geza, Jackson, Christopher B., Joensuu, Tarja, Damiano, John A., Kivity, Sara, Korczyn, Amos, Palotie, Aarno, Striano, Pasquale, Uccellini, Davide, Giuliano, Loretta, Andermann, Eva, Scheffer, Ingrid E., Michelucci, Roberto, Bahlo, Melanie, Franceschetti, Silvana, Sessa, William C., Berkovic, Samuel F., Lehesjoki, Anna-Elina

المساهمون: HUSLAB, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Research Programs Unit, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Helsinki Institute of Life Science HiLIFE

مصطلحات موضوعية: Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: The authors are indebted to the families participating in this study. We thank Paula Hakala, Katri Aksentjeff, Saara Tegelberg, Simona Allievi, and Marta Bayly for technical support and Michael Hildebrand for molecular analysis. The following funding bodies are acknowledged: Swiss National Foundation (Early Postdoc Mobility Grant [to C. Courage]), Folkhalsan Research Foundation (to A.-E.L.), NIH grant R35 HL139945 (toW.C.S.), Australian National Health and Medical Research Council (NHMRC) Program Grants GNT1054618 (to M.B.) and GNT1091593 (to S.F.B. and I.E.S.), NHMRC Senior Research Fellowship (GNT1102971) and Independent Research Institute Infrastructure Support Scheme (IRIISS) (to M.B.), Victorian Government's Operational Infrastructure Support Program (to M.B.), Istanbul University Scientific Research Fund-BAP-2019K12-149071 (to B.B.), NHMRC Senior Research Fellowship (GNT1104718) (to L.M.D.); and NHMRC Practitioner Fellowship (GNT1104831) (to I.E.S.). A.-E.L. is a HiLIFE Fellow at the University of Helsinki.; Courage , C , Oliver , K L , Park , E J , Cameron , J M , Grabinska , K A , Muona , M , Canafoglia , L , Gambardella , A , Said , E , Afawi , Z , Baykan , B , Brandt , C , di Bonaventura , C , Chew , H B , Criscuolo , C , Dibbens , L M , Castellotti , B , Riguzzi , P , Labate , A , Filla , A , Giallonardo , A T , Berecki , G , Jackson , C B , Joensuu , T , Damiano , J A , Kivity , S , Korczyn , A , Palotie , A , Striano , P , Uccellini , D , Giuliano , L , Andermann , E , Scheffer , I E , Michelucci , R , Bahlo , M , Franceschetti , S , Sessa , W C , Berkovic , S F & Lehesjoki , A-E 2021 , ' Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes ' , American Journal of Human Genetics , vol. 108 , no. 4 , pp. 722-738 . https://doi.org/10.1016/j.ajhg.2021.03.013; ORCID: /0000-0003-1035-6417/work/95201282; ORCID: /0000-0002-2527-5874/work/97266371; http://hdl.handle.net/10138/338557; c9bc1628-a008-471e-ade9-8ed5a47aba61; 000636658200014

الاتاحة: http://hdl.handle.net/10138/338557

المؤلفون: Tan, Khian Aun, Chew, Hui Bein, Yacob, Yusnita, Khoo, Teik Beng

المصدر: Journal of Pediatric Genetics; September 2024, Vol. 13 Issue: 3 p232-236, 5p

المؤلفون: Courage, Carolina, Oliver, Karen L., Park, Eon Joo, Cameron, Jillian M., Grabińska, Kariona A., Muona, Mikko, Canafoglia, Laura, Gambardella, Antonio, Said, Edith, Afawi, Zaid, Baykan, Betul, Brandt, Christian, di Bonaventura, Carlo, Chew, Hui Bein, Criscuolo, Chiara, Dibbens, Leanne M., Castellotti, Barbara, Riguzzi, Patrizia, Labate, Angelo, Filla, Alessandro, Giallonardo, Anna T., Berecki, Geza, Jackson, Christopher B., Joensuu, Tarja, Damiano, John A., Kivity, Sara, Korczyn, Amos, Palotie, Aarno, Striano, Pasquale, Uccellini, Davide, Giuliano, Loretta, Andermann, Eva, Scheffer, Ingrid E., Michelucci, Roberto, Bahlo, Melanie, Franceschetti, Silvana, Sessa, William C., Berkovic, Samuel F., Lehesjoki, Anna-Elina

المساهمون: Swiss National Science Foundation

المصدر: The American Journal of Human Genetics ; volume 108, issue 4, page 722-738 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2021.03.013
https://api.elsevier.com/content/article/PII:S0002929721000975?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929721000975?httpAccept=text/plain

المؤلفون: Ngu, Lock-Hock, Ong Peitee, Winnie, Leong, Huey Yin, Chew, Hui Bein

المصدر: Molecular Genetics and Metabolism Reports ; volume 12, page 28-32 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2017.05.002
https://api.elsevier.com/content/article/PII:S2214426917300277?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426917300277?httpAccept=text/plain

المؤلفون: Chew Hui Bein, Ngu Lock Hock, Sufin Yap, Fiqri Dizar Khaidizar, Ong Pei Tee, Keng Wee Teik, Ili Syazwana Abdullah, Teh Ser Huy, Zulqarnain Mohamed, Amirah Assyiqqin Abd Rahman

المصدر: Malaysian Journal of Science. 40:34-45

مصطلحات موضوعية: Genetics, G6PC, medicine.medical_specialty, Multidisciplinary, Biology, medicine.disease, Restriction enzyme, Molecular genetics, medicine, Glucose homeostasis, Glycogen storage disease, Gene, Genotyping, Allele frequency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9d963e92c584954cfadb9d5b9ecff1f1
https://doi.org/10.22452/mjs.vol40no1.3

المؤلفون: Tan, Khian Aun, Chew, Hui Bein, Yacob, Yusnita, Khoo, Teik Beng

المصدر: Journal of Pediatric Genetics ; volume 13, issue 03, page 232-236 ; ISSN 2146-4596 2146-460X

الاتاحة: http://dx.doi.org/10.1055/s-0042-1750747
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0042-1750747.pdf

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

Relation: Yubbu, Putri and Chew, Hui Bein and Yakob, Yusnita and Lua, Seok Hian and Samion, Hasri (2019) Foetal 2:1 atrioventricular block in a patient with Timothy syndrome (LQT8) (RCDD code: VI‑1B‑1.2). Journal of Rare Cardiovascular Diseases, 4 (2). ISSN 2299-3711; ESSN: 2300-5505

الاتاحة: http://psasir.upm.edu.my/id/eprint/79931/
https://www.researchgate.net/publication/347083484_Foetal_21_atrioventricular_block_in_a_patient_with_Timothy_syndrome_LQT8_RCDD_code_VI-1B-12

المؤلفون: Ong, Winnie Peitee, Md Haniffa, Muzhirah Aisha, Leong, Huey Yin, Chew, Hui Bein, Ch’ng, Gaik Siew, Ngu, Lock Hock, Patel, Nisha, Hashem, Mais Omar, Alkuraya, Fowzan Sami, Keng, Wee Teik

مصطلحات موضوعية: Part 4: Oral/poster

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::8f7219c32f44bb609af959c8a6f359ad
https://europepmc.org/articles/PMC4563434/

المؤلفون: Chew, Hui Bein, Ong, Winnie Peitee, Haniffa, Muzhirah Aisha Md, Leong, Huey Yin, Krishnan, Thurga, Poh, Rozaida Yuen Ying, Thong, Meow Keong, Ishak, Mohd Taufik, Keng, Wee Teik

مصطلحات موضوعية: Part 4: Oral/poster

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::dc66f71379a28b05bb42bbaa97827a16
https://europepmc.org/articles/PMC4563511/

المؤلفون: Chew, Hui Bein, Ngu, Lock Hock, Zabedah, Md Yunus, Keng, Wee Teik, Balasubramaniam, Shanti, Hanifah, Mohd Jamil M., Kobayashi, Keiko

المصدر: Journal of Inherited Metabolic Disease ; volume 33, issue S3, page 489-495 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-010-9248-6
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-010-9248-6

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

المصدر: Orphanet Journal of Rare Diseases; 6/14/2019, Vol. 14 Issue 1, pN.PAG-N.PAG, 1p

مصطلحات موضوعية: NATURAL history, LYSOSOMAL storage diseases, COHORT analysis, GENETIC counseling, CERVICAL vertebrae, CERVICAL cord

مصطلحات جغرافية: MALAYSIA