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Thomas Kubisiak
Thomas Kubisiak
Molecular and Behavioral Neuroscience Institute
Genetics
Biology
Mechanosensitive channels
Myelin
Leukodystrophy
2
Papers
14
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0
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Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
2021
Journal of Human Genetics
Huifang Yan
Haoran Ji
Thomas Kubisiak
Ye Wu
Jiangxi Xiao
Qiang Gu
Yanling Yang
Han Xie
Taoyun Ji
Kai Gao
Dongxiao Li
Hui Xiong
Zhen Shi
Ming Li
Yuehua Zhang
Ruoyu Duan
Xinhua Bao
Yuwu Jiang
Margit Burmeister
Jingmin Wang
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Citations (3)
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
2019
American Journal of Human Genetics
Huifang Yan
Guy Helman
Swetha E. Murthy
Haoran Ji
Joanna Crawford
Thomas Kubisiak
Stephen J. Bent
Jiangxi Xiao
Ryan J. Taft
Adam Coombs
Ye Wu
Ana Pop
Dongxiao Li
Linda S. de Vries
Yuwu Jiang
Gajja S. Salomons
Marjo S. van der Knaap
Ardem Patapoutian
Cas Simons
Margit Burmeister
Jingmin Wang
Nicole I. Wolf
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Citations (11)
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