Showing 1 - 3 results of 3 for search '"IGHMBP2"', query time: 0.08s Refine Results
  1. 1
    The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation in IGHMBP2 in China

    The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation in IGHMBP2 in China by Yanjun Wang, Ya Yang, Jingjing Wang, Qian Han, Nana Zhai, Shufang Xiao

    Published 2025-07-01
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  2. 2
    Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2S

    Potential ASO-based personalized treatment for Charcot-Marie-Tooth disease type 2S by Sandra Smieszek, Bartlomiej Przychodzen, Christina Tyner, Caroline Johnson, Haimeng Bai, Jennifer M. Kwon, D. Walker Hagan, Caitlyn Niccum, Rocky Brighton, Kenneth Hawkins, Romy Aiken, Ahmad Nawaz, Xiufang Guo, James Hickman, Christos M. Polymeropoulos, Gunther Birznieks, Mihael H. Polymeropoulos

    Published 2025-03-01
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  3. 3
    New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2

    New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2 by E. L. Dadali, I. V. Sharkova, S. S. Nikitin, F. A. Konovalov

    Published 2016-07-01
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