Exome sequencing in paediatric patients with movement disorders von 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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Anti-N-methyl-d-aspartate receptor encephalitis in children: Incidence and experience in Hong Kong von Ho, Alvin Chi-chung, Chan, Sophelia Hoi-shan, Chan, Eric, Wong, Sheila Suet-na, Fung, Sharon Tsui-hang, Cherk, Sharon Wan-wah, Fung, Eva Lai-wah, Ma, Kam-hung, Tsui, Kwing-wan, Yau, Eric Kin-cheong, Wong, Virginia Chun-nei

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Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese von Lee, Han-Chih Hencher, Wong, Shun, Leung, Frank Ying-Kit, Ho, Luen-Cheung, Chan, Siu-Ki Timothy, Fung, Tsui-Hang Sharon, Kwan, Kwok-Fan, Yau, Kin-Cheong Eric, Li, Ka-Wah, Yau, Wai-Nang, Leung, Hoi-Ki Cynthia, Chen, Sammy Pak-Lam, Mak, Chloe Miu

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Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder von Lee, Han-Chih, Lau, Nike, Yeung, Chun-Wing, Ng, Sui-Fun, Yau, Kin-Cheong, Mak, Chloe

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NMR-based urinalysis for beta-ketothiolase deficiency von Law, Chun-Yiu, Lam, Ching-Wan, Ching, Chor-kwan, Yau, Kin-Cheong Eric, Ho, Tsz-wai, Lai, Chi-kong, Mak, Chloe Miu

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"Using dried blood spots beyond newborn screening - is Hong Kong ready?": navigating the intersection of innovation readiness, privacy concerns, and Chinese parenting culture von Ngan, Olivia Miu Yung, Fung, Cheuk Wing, Kwok, Mei Kwun, Yau, Eric Kin Cheong, Lee, Shing Yan Robert, Luk, Ho-Ming, Belaramani, Kiran Moti

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Guillain-Barré syndrome in children – High occurrence of Miller Fisher syndrome in East Asian region von Chiu, Annie Ting Gee, Chan, Ricky Wing Ki, Yau, Maggie Lo Yee, Yuen, Angus Chi Lap, Lam, Alva King Fai, Lau, Shirley Wai Yin, Lau, Alan Ming Chung, Fung, Sharon Tsui Hang, Ma, Kam Hung, Lau, Christine Wai Ling, Yau, Man Mut, Ko, Chun Hung, Tsui, Kwing Wan, Ma, Che Kwan, Tai, Shuk Mui, Yau, Eric Kin Cheong, Fung, Eva, Wu, Shun Ping, Kwong, Karen Ling, Chan, Sophelia Hoi Shan

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Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area von Ling, Tsz-Ki, Wong, Ka-Chung, Chan, Candace Yim, Lau, Nike Kwai-Cheung, Law, Chun-yiu, Lee, Han-Chih Hencher, Lai, Chi-Kong, Chong, Yeow-Kuan, Yau, Kin-Cheong Eric, Cheung, Ka-Ming, Ko, Chun-Hung, Fung, Cheuk-wing, Lee, Lai-Ka, Wong, Sheila Suet-Na, Mak, Chloe M, Chan, Albert Yan-Wo, Tam, Sidney, Lam, Ching-wan

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Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy von Law, Chun-Yiu, Chang, Sharon Tzu-Lun, Cho, Sun Young, Yau, Eric Kin-Cheong, Ng, Grace Sui-Fun, Fong, Nai-Chung, Lam, Ching-Wan

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Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype von Au, Lisa Wing Chi, Lee, Hencher Han Chih, Sheng, Bun, Chan, Kwok Yin, Yau, Eric Kin Cheong, Mak, Chloe Miu, Chan, Albert Yan Wo, Chan, Anne Yin Yan, Lau, Claire Ka Yee, Mok, Vincent Chung Tong, Lam, Ching Wan

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Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong von Belaramani, Kiran Moti, Fung, Cheuk Wing, Kwok, Anne Mei Kwun, Lee, Shing Yan Robert, Yau, Eric Kin Cheong, Luk, Ho Ming, Mak, Chloe Miu, Yeung, Matthew Chun Wing, Ngan, Olivia Miu Yung

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Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad von Gloria Pang, Shir Wey, Chih Lee, Hencher Han, Ng Wing kei, Carol, Yau, Eric Kin Cheong, Hui, Joannie

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Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey von Belaramani, Kiran Moti, Chan, Toby Chun Hei, Hau, Edgar Wai Lok, Yeung, Matthew Chun Wing, Kwok, Anne Mei Kwun, Lo, Ivan Fai Man, Law, Terry Hiu Fung, Wu, Helen, Wong, Sheila Suet Na, Lam, Shirley Wai, Ha, Gladys Ha Yin, Lau, Toby Pui Yee, Wong, Tsz Ki, Or, Venus Wai Ching, Wong, Rosanna Ming Sum, Ming, Wong Lap, Chow, Jasmine Chi Kwan, Yau, Eric Kin Cheong, Fu, Antony, Chong, Josephine Shuk Ching, Yau, Ho Chung, Poon, Grace Wing Kit, Ng, Kwok Leung, Chan, Kwong Tat, Lam, Yuen Yu, Hui, Joannie, Mak, Chloe Miu, Fung, Cheuk Wing

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Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients von Sheng, Bun, Chu, Yim Pui, Wong, Wa Tai, Yau, Eric Kin Cheong, Chen, Sammy Pak Lam, Luk, Wing Hang

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Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study von Lee, Han-Chih Hencher, Lai, Chi-Kong, Yau, Kin-Cheong Eric, Siu, Tak-Shing, Mak, Chloe Miu, Yuen, Yuet-Ping, Chan, Kwok-Yin, Tam, Sidney, Lam, Ching-Wan, Chan, Albert Yan-Wo

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Evaluation of the 18-month "Pilot Study of Newborn Screening for Inborn Errors of Metabolism" in Hong Kong von Lam, Rebecca Kit-yi, Lo, Ivan Fai-man, Leung, Chau-mau, Tong, Anna Yee-ha, Yeung, Sam Wing-chiu, Leung, Kwok-yin, Hui, Pui-wah, Tsang, Siu-ling, Ma, Grace Gar-yee, But, Betty Wai-man, Hui, Joannie Chung-ni, Poon, Grace Wing-kit, Yau, Eric Kin-cheong, Wong, Kit-fai, Mak, Chloe Miu, Tso, Karen Ka-pik, Hau, Edgar Wai-lok, Au, Andes Wing-mui

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Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong von Siu, Wai-Kwan, Lam, Ching-Wan, Mak, Chloe Miu, Lau, Elizabeth Tak-Kwong, Tang, Mary Hoi-Yin, Tang, Wing-Fai, Poon-Mak, Rachel Sui-Man, Lee, Chi-Chiu, Hung, Se-Fong, Leung, Patrick Wing-Leung, Kwong, Karen Ling, Yau, Eric Kin-Cheong, Ng, Grace Sui-Fun, Fong, Nai-Chung, Chan, Kwok-Yin

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X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family von Hung, Ling-Yin, Subramaniam, Shreenidhi Ranganatha, Tong, Tsz-Yan Tammy, Chan, Wing-Ki, Yau, Eric Kin-Cheong, Ching, Chor-Kwan

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Clinical characteristics of unvaccinated or incompletely vaccinated children with neurological manifestations due to SARS‐CoV‐2 Omicron infection von Tso, Winnie Wan‐Yee, Kwan, Mike Yat‐Wah, Kwok, Janette Siu‐Yin, Tsang, Jessica Oi‐Ling, Yip, Cyril Chik‐Yan, Leung, Lok‐Kan, Li, Cuixin, Wang, Yuliang, Chow, Mathew Siu‐Chun, Tsang, Anita Man‐Ching, Chim, Stella, Chow, Chin‐Ying, Ho, Alvin Chi‐Chung, Chan, Sophelia Hoi‐Shan, Tai, Shuk‐Mui, Lee, Wing‐Cheong, Chan, Victor Chi‐Man, Yau, Eric Kin‐Cheong, Sun, Jacquelyne Ka‐Li, Chow, Hei‐Man, Lau, Yu‐Lung, Ip, Patrick, Chan, Jasper Fuk‐Woo

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Evaluation of sleep disturbances in children with epilepsy: A questionnaire-based case–control study von Chan, Bosco, Cheong, Eric Yau Kin, Ng, Sui Fun Grace, Chan, Yick Chun, Lee, Qun Ui, Chan, Kwok Yin

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