Resultados da busca - Manting Xu

Identification of a Novel Variant in MT-CO3 Causing MELAS por Manting Xu, Manting Xu, Manting Xu, Robert Kopajtich, Robert Kopajtich, Matthias Elstner, Zhaoxia Wang, Zhimei Liu, Junling Wang, Holger Prokisch, Holger Prokisch, Fang Fang

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Overreliance on EEG normalization: a case report of DEE-SWAS treated as presumed NCSE leading to avoidable escalation por Jie Wu, Jie Deng, Manting Xu, Liyi Huang, Guangyuan Zhao

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Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation por Manting Xu, Xin Duan, Xiaotun Ren, Zhimei Liu, Shuhua Chen, Fang Fang

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“A fly appeared”: <i>sable</i>, a classic <i>Drosophila</i> mutation, maps to <i>Yippee</i>, a gene affecting body color, wings, and bristles por Derek M Dean, David L Deitcher, Caleigh O Paster, Manting Xu, David W Loehlin

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Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome por Junling Wang, Zhimei Liu, Manting Xu, Xiaodi Han, Changhong Ren, Xinying Yang, Chunhua Zhang, Fang Fang

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Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation por Hua Li, Fang Fang, Manting Xu, Zhimei Liu, Ji Zhou, Xiaohui Wang, Xiaofei Wang, Tongli Han

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Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome por Junling Wang, Zhimei Liu, Manting Xu, Xiaodi Han, Changhong Ren, Xinying Yang, Chunhua Zhang, Fang Fang

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Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes por Hua Li, Wei Wang, Wei Wang, Xiaodi Han, Yujia Zhang, Lifang Dai, Manting Xu, Jie Deng, Changhong Ding, Xiaohui Wang, Chunhong Chen, Xiaofeng Yang, Fang Fang

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Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient por Rui Ban, Rui Ban, Zhimei Liu, Masaru Shimura, Masaru Shimura, Xiao Tong, Junling Wang, Lei Yang, Manting Xu, Jing Xiao, Kei Murayama, Matthias Elstner, Holger Prokisch, Holger Prokisch, Holger Prokisch, Fang Fang

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics por Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch

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