Risultati della ricerca - Fung, Cheuk‐Wing

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy di Fung, Cheuk‐Wing, Kwong, Anna Ka‐Yee, Wong, Virginia Chun‐Nei

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Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome di Kwong, Anna Ka-Yee, Fung, Cheuk-Wing, Chan, Siu-Yuen, Wong, Virginia Chun-Nei

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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 di Kwong, Anna Ka-Yee, Ho, Alvin Chi-Chung, Fung, Cheuk-Wing, Wong, Virginia Chun-Nei

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Mitochondrial disorders in children: toward development of small‐molecule treatment strategies di Koopman, Werner JH, Beyrath, Julien, Fung, Cheuk‐Wing, Koene, Saskia, Rodenburg, Richard J, Willems, Peter HGM, Smeitink, Jan AM

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Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency di Kwong, Anna Ka‐Yee, Wong, Sheila Suet‐Na, Rodenburg, Richard J. T., Smeitink, Jan, Chan, Godfrey Chi Fung, Fung, Cheuk‐Wing

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Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug di Ling, Janet, Yeung, Wai Lan, Hon, Kam Lun, Lo, Ivan F. M., Luk, Ho-Ming, Fung, Cheuk Wing, Leung, Alexander K. C.

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High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes di Kwong, Anna Ka‐Yee, Wong, Virginia Chun‐Nei, Wong, Sheila Suet‐Na, Chu, Vanessa Loi‐Yan, Koene, Saskia, Smeitink, Jan, Fung, Cheuk‐Wing

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Computerized attention training for visually impaired older adults with dementia: a case study di 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

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Computerized attention training for visually impaired older adults with dementia: a case study di 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

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COG5-CDG: expanding the clinical spectrum di 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

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Correction: COG5-CDG: expanding the clinical spectrum di 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

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A fatal case of COQ7‐associated primary coenzyme Q(10) deficiency di 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

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Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey di 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

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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome di 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

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Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy di 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

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International Paediatric Mitochondrial Disease Scale di 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.

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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 di 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.

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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 di 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

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Exome sequencing in paediatric patients with movement disorders di 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

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Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10 di 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

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