Torthaí cuardaigh - Fung, Cheuk‐Wing
- 1 - 20 toradh as 22 á dtaispeáint
- Téigh chuig an gcéad leathanach eile
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Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy de réir Kwong, Anna Ka-Yee, Ho, Alvin Chi-Chung, Fung, Cheuk-Wing, Wong, Virginia Chun-Nei
Foilsithe / Cruthaithe 2015Téacs -
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Mitochondrial disorders in children: toward development of small‐molecule treatment strategies de réir Koopman, Werner JH, Beyrath, Julien, Fung, Cheuk‐Wing, Koene, Saskia, Rodenburg, Richard J, Willems, Peter HGM, Smeitink, Jan AM
Foilsithe / Cruthaithe 2016Téacs -
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Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency de réir Kwong, Anna Ka‐Yee, Wong, Sheila Suet‐Na, Rodenburg, Richard J. T., Smeitink, Jan, Chan, Godfrey Chi Fung, Fung, Cheuk‐Wing
Foilsithe / Cruthaithe 2021Téacs -
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Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug de réir Ling, Janet, Yeung, Wai Lan, Hon, Kam Lun, Lo, Ivan F. M., Luk, Ho-Ming, Fung, Cheuk Wing, Leung, Alexander K. C.
Foilsithe / Cruthaithe 2022Téacs -
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High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes de réir Kwong, Anna Ka‐Yee, Wong, Virginia Chun‐Nei, Wong, Sheila Suet‐Na, Chu, Vanessa Loi‐Yan, Koene, Saskia, Smeitink, Jan, Fung, Cheuk‐Wing
Foilsithe / Cruthaithe 2021Téacs -
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Computerized attention training for visually impaired older adults with dementia: a case study de réir Kuo, Michael Chih Chien, Fong, Tsz Yang, Fung, Cheuk Wing, Pang, Chi To, So, Lok Man, Tse, Ka Ki, Chiu, Armstrong Tat San, Yeung, King
Foilsithe / Cruthaithe 2020Téacs -
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Computerized attention training for visually impaired older adults with dementia: a case study de réir Kuo, Michael Chih Chien, Fong, Tsz Yang, Fung, Cheuk Wing, Pang, Chi To, So, Lok Man, Tse, Ka Ki, Chiu, Armstrong Tat San, Yeung, King
Foilsithe / Cruthaithe 2020Online -
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COG5-CDG: expanding the clinical spectrum de réir Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Régal, Luc, Deconinck, Nicolas, Dionisi-Vici, Carlo, Fung, Cheuk-wing, Sturiale, Luisa, Rosnoblet, Claire, Foulquier, François, Matthijs, Gert, Jaeken, Jaak
Foilsithe / Cruthaithe 2012Téacs -
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Correction: COG5-CDG: expanding the clinical spectrum de réir Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Régal, Luc, Deconinck, Nicolas, Dionisi-Vici, Carlo, Fung, Cheuk-wing, Sturiale, Luisa, Rosnoblet, Claire, Foulquier, François, Matthijs, Gert, Jaeken, Jaak
Foilsithe / Cruthaithe 2013Téacs -
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A fatal case of COQ7‐associated primary coenzyme Q(10) deficiency de réir Kwong, Anna K.‐Y., Chiu, Annie T.‐G., Tsang, Mandy H.‐Y., Lun, Kin‐Shing, Rodenburg, Richard J. T., Smeitink, Jan, Chung, Brian H.‐Y., Fung, Cheuk‐Wing
Foilsithe / Cruthaithe 2019Téacs -
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Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey de réir Mak, Christopher CY, Leung, Gordon KC, Mok, Gary TK, Yeung, Kit San, Yang, Wanling, Fung, Cheuk-Wing, Chan, Sophelia HS, Lee, So-Lun, Lee, Ni-Chung, Pfundt, Rolph, Lau, Yu-Lung, Chung, Brian HY
Foilsithe / Cruthaithe 2018Téacs -
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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome de réir Gras, Domitille, Cousin, Christelle, Kappeler, Caroline, Fung, Cheuk‐Wing, Auvin, Stéphane, Essid, Nouha, Chung, Brian Hy, Da Costa, Lydie, Hainque, Elodie, Luton, Marie‐Pierre, Petit, Vincent, Vuillaumier‐Barrot, Sandrine, Boespflug‐Tanguy, Odile, Roze, Emmanuel, Mochel, Fanny
Foilsithe / Cruthaithe 2017Téacs -
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Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy de réir Tsang, Mandy Ho‐Yin, Leung, Gordon Ka‐Chun, Ho, Alvin Chi‐Chung, Yeung, Kit‐San, Mak, Christopher Chun‐Yu, Pei, Steven Lim‐Cho, Yu, Mullin Ho‐Chung, Kan, Anita Sik‐Yau, Chan, Kelvin Yuen‐Kwong, Kwong, Karen Ling, Lee, So‐Lun, Yung, Ada Wing‐Yan, Fung, Cheuk‐Wing, Chung, Brian Hon‐Yin
Foilsithe / Cruthaithe 2018Téacs -
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International Paediatric Mitochondrial Disease Scale de réir Koene, Saskia, Hendriks, Jan C. M., Dirks, Ilse, de Boer, Lonneke, de Vries, Maaike C., Janssen, Mirian C. H., Smuts, Izelle, Fung, Cheuk-Wing, Wong, Virginia C. N., de Coo, I. René F. M., Vill, Katharina, Stendel, Claudia, Klopstock, Thomas, Falk, Marni J., McCormick, Elizabeth M., McFarland, Robert, de Groot, Imelda J. M., Smeitink, Jan A. M.
Foilsithe / Cruthaithe 2016Téacs -
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The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes de réir Yeung, Kit San, Yu, Florrie N. Y., Fung, Cheuk Wing, Wong, Sheila, Lee, Hencher H. C., Fung, Sharon T. H., Fung, Genevieve P. G., Leung, Kwok Yin, Chung, Wai Hang, Lee, Yun Ting, Ng, Vivian K. S., Yu, Mullin H. C., Fung, Jasmine L. F., Tsang, Mandy H. Y., Chan, Kelvin Y. K., Chan, Sophelia H. S., Kan, Anita S. Y., Chung, Brian H. Y.
Foilsithe / Cruthaithe 2020Téacs -
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Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population de réir Tsang, Mandy H.Y., Kwong, Anna K.Y., Chan, Kate L.S., Fung, Jasmine L.F., Yu, Mullin H.C., Mak, Christopher C.Y., Yeung, Kit-San, Rodenburg, Richard J.T., Smeitink, Jan A.M., Chan, Rachel, Tsoi, Thomas, Hui, Joannie, Wong, Shelia S.N, Tai, Shuk-Mui, Chan, Victor C.M., Ma, Che-Kwan, Fung, Sharon T.H., Wu, Shun-Ping, Chak, W.K., Chung, Brian H.Y., Fung, Cheuk-Wing
Foilsithe / Cruthaithe 2020Téacs -
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Exome sequencing in paediatric patients with movement disorders de réir Kwong, Anna Ka-Yee, Tsang, Mandy Ho-Yin, Fung, Jasmine Lee-Fong, Mak, Christopher Chun-Yu, Chan, Kate Lok-San, Rodenburg, Richard J. T., Lek, Monkol, Huang, Shushu, Pajusalu, Sander, Yau, Man-Mut, Tsoi, Cheung, Fung, Sharon, Liu, Kam-Tim, Ma, Che-Kwan, Wong, Sheila, Yau, Eric Kin-Cheong, Tai, Shuk-Mui, Fung, Eva Lai-Wah, Wu, Nick Shun-Ping, Tsung, Li-Yan, Smeitink, Jan, Chung, Brian Hon-Yin, Fung, Cheuk-Wing
Foilsithe / Cruthaithe 2021Téacs -
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Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10 de réir Mak, Annisa Shui Lam, Chiu, Annie Ting Gee, Leung, Gordon Ka Chun, Mak, Christopher Chun Yu, Chu, Yoyo Wing Yiu, Mok, Gary Tsz Kin, Tang, Wing Fai, Chan, Kelvin Yuen Kwong, Tang, Mary Hoi Yin, Lau Yim, Elizabeth Tak-Kwong, So, Kin Wai, Tao, Victoria Qinchen, Fung, Cheuk Wing, Wong, Virginia Chun Nei, Uddin, Mohammed, Lee, So Lun, Marshall, Christian R., Scherer, Stephen W., Kan, Anita Sik Yau, Chung, Brian Hon Yin
Foilsithe / Cruthaithe 2017Téacs