Zobrazeno 1 - 10
of 3 853
pro vyhledávání: '"Smeitink J"'
Publikováno v:
American Journal of Medical Genetics. Part A; October 2006, Vol. 140 Issue: 20 p2248-2250, 3p
Autor:
Wong TS; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Belaramani KM; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Chan CK; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Chan WK; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Chan WL; Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, SAR, People's Republic of China., Chang SK; Department of Medicine, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China., Cheung SN; Department of Medicine and Geriatrics, Kwong Wah Hospital, Hong Kong, SAR, People's Republic of China., Cheung KY; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Cheung YF; Department of Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Chong SJ; Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, SAR, People's Republic of China., Chow CJ; Department of Paediatrics and Adolescent Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Chung HB; Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, People's Republic of China.; Hong Kong Genome Institute, Hong Kong, SAR, People's Republic of China., Fan SF; Department of Medicine and Therapeutics, Prince of Wales Hospital, Hong Kong, SAR, People's Republic of China., Fok WJ; Department of Medicine, Yan Chai Hospital, Hong Kong, SAR, People's Republic of China., Fong KW; Department of Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Fung TS; Department of Paediatrics and Adolescent Medicine, Kwong Wah Hospital, Hong Kong, SAR, People's Republic of China., Hui KF; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Hui TH; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Hui J; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Ko CH; Department of Paediatrics and Adolescent Medicine, Caritas Medical Centre, Hong Kong, SAR, People's Republic of China., Kwan MC; Department of Medicine and Geriatrics, Kwong Wah Hospital, Hong Kong, SAR, People's Republic of China., Kwok MA; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Kwok SJ; Department of Chemical Pathology, Prince of Wales Hospital, Hong Kong, SAR, People's Republic of China., Lai MS; Department of Medicine, North District Hospital, Hong Kong, SAR, People's Republic of China., Lam YO; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Lam CW; Department of Pathology, The University of Hong Kong, Hong Kong, SAR, People's Republic of China., Lau MC; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Law CE; Department of Chemical Pathology, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China., Lee WC; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, SAR, People's Republic of China., Lee HH; Department of Chemical Pathology, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Lee CN; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, SAR, People's Republic of China., Leung KH; Department of Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Leung KY; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Li SH; Department of Medicine, North District Hospital, Hong Kong, SAR, People's Republic of China., Ling TJ; Department of Chemical Pathology, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China., Liu KT; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, SAR, People's Republic of China., Lo FM; Department of Health, Clinical Genetic Service, Hong Kong, SAR, People's Republic of China., Lui HT; Department of Medicine, Tseung Kwan O Hospital, Hong Kong, SAR, People's Republic of China., Luk CO; Department of Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Luk HM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Ma CK; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Ma K; Department of Medicine and Therapeutics, Prince of Wales Hospital, Hong Kong, SAR, People's Republic of China., Ma KH; Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole hospital, Hong Kong, SAR, People's Republic of China., Mew YN; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Mo A; Department of Paediatrics and Adolescent Medicine, Kwong Wah Hospital, Hong Kong, SAR, People's Republic of China., Ng SF; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Poon WG; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China., Rodenburg R; Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medicine Centre, Nijmegen, The Netherlands., Sheng B; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Smeitink J; Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medicine Centre, Nijmegen, The Netherlands., Szeto CC; Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong, SAR, People's Republic of China., Tai SM; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, SAR, People's Republic of China., Tse CA; Department of Medicine, Yan Chai Hospital, Hong Kong, SAR, People's Republic of China., Tsung LL; Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong, SAR, People's Republic of China., Wong HJ; Department of Medicine and Geriatrics, Caritas Medical Centre, Hong Kong, SAR, People's Republic of China., Wong WW; Department of Medicine and Geriatrics, Caritas Medical Centre, Hong Kong, SAR, People's Republic of China., Wong KK; Department of Medicine, Yan Chai Hospital, Hong Kong, SAR, People's Republic of China., Wong SS; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Wong CV; Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, People's Republic of China., Wong WS; Department of Pathology, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Wong CF; Department of Chemical Pathology, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China., Wu SP; Department of Paediatrics and Adolescent Medicine, Queen Elizabeth Hospital, Hong Kong, SAR, People's Republic of China., Wu HJ; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Yau MM; Department of Paediatrics and Adolescent Medicine, Tseung Kwan O Hospital, Hong Kong, SAR, People's Republic of China., Yau KE; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, SAR, People's Republic of China., Yeung WL; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Yeung HJ; Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong, SAR, People's Republic of China., Yip KE; Department of Medicine and Geriatrics, Ruttonjee and Tang Shiu Kin Hospitals, Hong Kong, SAR, People's Republic of China., Young PT; Department of Medicine and Geriatrics, Ruttonjee and Tang Shiu Kin Hospitals, Hong Kong, SAR, People's Republic of China., Yuan G; Department of Medicine, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China., Yuen YL; Department of Chemical Pathology, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China., Yuen CL; Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong, SAR, People's Republic of China., Fung CW; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, People's Republic of China. fcw1209m@hku.hk.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Mar 02; Vol. 18 (1), pp. 43. Date of Electronic Publication: 2023 Mar 02.
Akademický článek
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Autor:
O'Byrne, J.J., Tarailo-Graovac, M., Ghani, Aisha, Champion, M.P., Deshpande, Charu, Dursun, Ali, Kluijtmans, L.A.J., Smeitink, J., Wevers, R.A., Engelke, U.F.H., Rodenburg, R.J.T., Salvarinova, R., Karnebeek, C.D. van
Publikováno v:
Molecular Genetics and Metabolism, 123, 1, pp. 28-42
Molecular Genetics and Metabolism, 123, 28-42
Molecular Genetics and Metabolism, 123, 28-42
Contains fulltext : 184066.pdf (Publisher’s version ) (Open Access)
Akademický článek
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Publikováno v:
Jimd Reports, 46, 52-62
JIMD Reports
Jimd Reports, 46, 1, pp. 52-62
JIMD Reports
Jimd Reports, 46, 1, pp. 52-62
Contains fulltext : 206787.pdf (Publisher’s version ) (Open Access) Migraine, characterized by recurrent attacks of predominantly unilateral throbbing headache, affects approximately 15% of the adult population and is an important cause of disabili
Autor:
Smeitink J; Khondrion BV, Transistorweg 5C, M Building, 6534, AT, Nijmegen, The Netherlands. info@khondrion.com., van Maanen R; Khondrion BV, Transistorweg 5C, M Building, 6534, AT, Nijmegen, The Netherlands., de Boer L; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center Nijmegen, Geert Grooteplein Zuid 10, 6500 HB, Nijmegen, The Netherlands., Ruiterkamp G; Khondrion BV, Transistorweg 5C, M Building, 6534, AT, Nijmegen, The Netherlands., Renkema H; Khondrion BV, Transistorweg 5C, M Building, 6534, AT, Nijmegen, The Netherlands.
Publikováno v:
BMC neurology [BMC Neurol] 2022 Apr 27; Vol. 22 (1), pp. 158. Date of Electronic Publication: 2022 Apr 27.
Autor:
Baertling, F., Sanchez-Caballero, L., van den Brand, M. A. M., Fung, C. -W., Chan, S. H. -S., Wong, V. C. -N., Hellebrekers, D. M. E., de Coo, I. F. M., Smeitink, J. A. M., Rodenburg, R. J. T., Nijtmans, L. G. J.
Publikováno v:
Clinical Genetics, 93, 111-118
Clinical Genetics, 93, 1, pp. 111-118
Clinical Genetics, 93(1), 111-118. Wiley
Clinical Genetics, 93, 1, pp. 111-118
Clinical Genetics, 93(1), 111-118. Wiley
Mitochondrial respiratory chain complex I consists of 44 different subunits and contains 3 functional modules: the Q-, the N- and the P-module. NDUFA9 is a Q-module subunit required for complex I assembly or stability. However, its role in complex I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::79b6d4692fcb1c35ccf2b78e60c18aa4
http://hdl.handle.net/2066/190456
http://hdl.handle.net/2066/190456
Akademický článek
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Autor:
Kwong AK; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Wong VC; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Wong SS; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China., Chu VL; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Koene S; Radboud Centre for Mitochondrial Medicine, Department of Paediatrics, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., Smeitink J; Radboud Centre for Mitochondrial Medicine, Department of Paediatrics, Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., Fung CW; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China.
Publikováno v:
Epilepsia open [Epilepsia Open] 2021 Dec; Vol. 6 (4), pp. 685-693. Date of Electronic Publication: 2021 Sep 29.