Resultados de procura - Fung, Cheuk‐Wing

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy por Kwong, Anna Ka-Yee, Ho, Alvin Chi-Chung, Fung, Cheuk-Wing, Wong, Virginia Chun-Nei

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso

COG5-CDG: expanding the clinical spectrum por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Correction: COG5-CDG: expanding the clinical spectrum por 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

Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

International Paediatric Mitochondrial Disease Scale por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes por 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.

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Exome sequencing in paediatric patients with movement disorders por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso