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He, Ruxuan
44  results:
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1

Clinical features and ALDH5A1 gene findings in 13 Chinese c..:

Dong, Hui ; Ma, Xue ; Chen, Zhehui...
BMC Medical Genomics.  17 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

Dual rare genetic diseases in five pediatric patients: insi..:

Liu, Yupeng ; Ma, Xue ; Chen, Zhehui...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

Beta‐mannosidosis presenting predominantly with recurrent p..:

He, Ruxuan ; Liu, Jinrong ; Xu, Hui...
Pediatric Pulmonology.  58 (2023)  4 - p. 1272-1274 , 2023
Link: https://doi.org/10.1002/..
 
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4

Effective long-term sirolimus treatment in hypoxemia mainly..:

Liu, Jinrong ; Duan, Xiaomin ; Yin, Jie...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

Clinical features and "early" corticosteroid treatment outc..:

Liu, Jinrong ; He, Ruxuan ; Zhang, Xiaoyan...
Frontiers in Cellular and Infection Microbiology.  13 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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6

Case report: An asymptomatic mother with an inborn error of..:

Liu, Yu-Peng ; He, Ru-Xuan ; Chen, Zhe-Hui...
Frontiers in Nutrition.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

Late-onset cblC deficiency around puberty: a retrospective ..:

Chen, Zhehui ; Dong, Hui ; Liu, Yupeng...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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8

Analysis of the relationship between phenotypes and genotyp..:

Liu, Yi ; Chen, Zhehui ; Dong, Hui...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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9

Comparing amniotic fluid mass spectrometry assays and amnio..:

Liu, Yupeng ; Chen, Zhehui ; Kang, Lulu...
PLOS ONE.  17 (2022)  3 - p. e0265766 , 2022
Link: https://doi.org/10.1371/..
 
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10

Joint parameter and state estimation for stochastic uncerta..:

LI, Shuhui ; DENG, Zhihong ; FENG, Xiaoxue..
Chinese Journal of Aeronautics.  35 (2022)  5 - p. 69-86 , 2022
Link: https://doi.org/10.1016/..
 
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11

One potential hotspot ACADVL mutation in Chinese patients w..:

Li, Xiyuan ; Ma, Rui ; Liu, Yi...
Clinica Chimica Acta.  503 (2020)  - p. 218-222 , 2020
Link: https://doi.org/10.1016/..
 
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12

Mycoplasma pneumoniae pneumonia associated thrombosis at Be..:

Liu, Jinrong ; He, Ruxuan ; Wu, Runhui...
BMC Infectious Diseases.  20 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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13

Analysis of 70 patients with hydrocephalus due to cobalamin..:

He, Ruxuan ; Zhang, Hongwu ; Kang, Lulu...
Neurology.  95 (2020)  23 - p. , 2020
Link: https://doi.org/10.1212/..
 
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14

Variable phenotypes and outcomes associated with the MMACHC..:

He, Ruxuan ; Mo, Ruo ; Shen, Ming...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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15

Cobalamin C deficiency presenting with diffuse alveolar hem..:

Liu, Jinrong ; Tang, Xiaolei ; Zhou, Chunju...
Pediatric Pulmonology.  55 (2020)  6 - p. 1481-1486 , 2020
Link: https://doi.org/10.1002/..
 
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