Hasil Pencarian - Manting Xu

  • Menampilkan 1 - 9 hasil dari 9
Perbaiki Hasil
  1. 1
    Identification of a Novel Variant in MT-CO3 Causing MELAS

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

    Diterbitkan 2021-05-01
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  2. 2
    Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation

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

    Diterbitkan 2022-03-01
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  3. 3
    “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

    “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 oleh Derek M Dean, David L Deitcher, Caleigh O Paster, Manting Xu, David W Loehlin

    Diterbitkan 2022-03-01
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  4. 4
    Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

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

    Diterbitkan 2021-06-01
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  5. 5
    Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation

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

    Diterbitkan 2019-12-01
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  6. 6
    Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

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

    Diterbitkan 2021-03-01
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  7. 7
    Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes

    Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes oleh 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

    Diterbitkan 2021-10-01
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  8. 8
    Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient

    Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient oleh 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

    Diterbitkan 2021-07-01
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  9. 9
    Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Clinical implementation of RNA sequencing for Mendelian disease diagnostics oleh 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

    Diterbitkan 2022-04-01
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