खोज परिणाम - Cheuk Wing Fung
- प्रदर्शित 1 - 7 परिणाम 7
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A fatal case of <i>COQ7</i>‐associated primary coenzyme Q<sub>10</sub> deficiency द्वारा Anna Ka‐Yee Kwong, Annie Ting Gee Chiu, Mandy Ho‐Yin Tsang, Kin‐Shing Lun, Richard J. Rodenburg, Jan Smeitink, Brian Hon‐Yin Chung, Cheuk‐Wing Fung
प्रकाशित 2019Artigo -
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The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency द्वारा Natalia Juliá‐Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horváth, Thomas Lücke, Cheuk Wing Fung, Suet‐Na Wong, Elisenda Cortès‐Saladelafont, M. Mar Rovira‐Remisa, Yılmaz Yıldız, Saadet Mercimek‐Andrews, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung‐Klawitter, Kathrin Jeltsch, Serap Sivri, Sven F. Garbade, Àngels García‐Cazorla, Thomas Opladen
प्रकाशित 2024Artigo -
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The epileptology of GNB5 encephalopathy द्वारा Gemma Poke, Chontelle King, Alison M. Muir, Guillem de Valles‐Ibáñez, Michele Germano, Carolina Fischinger Moura de Souza, Jasmine Lee‐Fong Fung, Brian Hon‐Yin Chung, Cheuk Wing Fung, Cyril Mignot, Adina Iléa, Boris Keren, Anne‐Isabelle Vermersch, Suzanne L. Davis, Thorsten Stanley, Mahendranath Moharir, Pekka Kannus, Zhuo Shao, Natascia Malerba, Giuseppe Merla, Heather C. Mefford, Ingrid E. Scheffer, Lynette G. Sadleir
प्रकाशित 2019Artigo -
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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese द्वारा Mullin H.C. Yu, Mandy Ho-Yin Tsang, Sophie Lai, Matthew Sai-pong Ho, Donald Tse, Brooke Willis, Anna Ka‐Yee Kwong, Yen-Yin Chou, Shuan-Pei Lin, Catarina M. Quinzii, Wuh‐Liang Hwu, Yin‐Hsiu Chien, Pao‐Lin Kuo, C. Chan, Cheung Tsoi, Shuk-Ching Chong, Richard J. Rodenburg, Jan Smeitink, Christopher Chun Yu Mak, Kit San Yeung, Jasmine Lee-Fong Fung, Wendy Lam, Joannie Hui, Ni‐Chung Lee, Cheuk‐Wing Fung, Brian Hon‐Yin Chung
प्रकाशित 2019Artigo -
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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs द्वारा Claudia Ching Yan Chung, Gordon K. C. Leung, Christopher Chun Yu Mak, Jasmine Lee Fong Fung, Mianne Lee, Steven Lim Cho Pei, Mullin H.C. Yu, Vivian Chin Chin Hui, Joshua Chun Ki Chan, Jeffrey Fong Ting Chau, Marcus C.Y. Chan, Mandy Ho‐Yin Tsang, Wilfred Hing Sang Wong, Joanna Y.L. Tung, Kin Shing Lun, Yiu Ki Ng, Cheuk Wing Fung, Mabel Siu Chun Wong, Rosanna Wong, YL Lau, Gcf Chan, So Lun Lee, Kit San Yeung, Brian Hon‐Yin Chung
प्रकाशित 2020Artigo
खोज साधन:
संबंधित विषय
Medicine
Gene
Internal medicine
Pediatrics
Biology
Genetics
Mutation
Psychiatry
Coenzyme Q10
Computer science
Disease
Epilepsy
Exome sequencing
Hypotonia
Missense mutation
Pathology
Phenotype
Psychology
Allele
Alternative splicing
Ataxia
Atrophy
Biochemistry
Chemistry
Chorea
Choreoathetosis
Cohort
Compound heterozygosity
Dravet syndrome
Dystonia