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Works (3)

Optical genome mapping reveals maternal mosaicism in two Sibling cases of Early-Onset Facioscapulohumeral muscular dystrophy type 1

Clinica Chimica Acta
2025-01 | Journal article
DOI: 10.1016/j.cca.2024.120062
Contributors: Chen Liu; Rui Dong; Bingyi Shi; Kai Ma; Lili Kang; Xiaomei Li; Xianghong Liu; Lili Miao; Huiting Yu; Yuqiang Lv et al.
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Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population

Journal of Human Genetics
2024-09 | Journal article
DOI: 10.1038/s10038-024-01257-2
Contributors: Rui Dong; Ruifeng Jin; Hongwei Zhang; Haiyan Zhang; Min Xue; Yue Li; Kaihui Zhang; Yuqiang Lv; Xiaoying Li; Yi Liu et al.
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Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review

Heliyon
2024-07 | Journal article
DOI: 10.1016/j.heliyon.2024.e33457
Contributors: Rui Dong; Chen Liu; Yulin Liu; Haiyan Zhang; Guohua Liu; Yi Liu; Zhongtao Gai
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