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Hu, Xuyun
174  results:
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1

Novel mutation in PARS2 revealed highly variable phenotype ..:

Hu, Xuyun ; Guo, Ruolan ; Hao, Chanjuan.
Gene.  894 (2024)  - p. 147985 , 2024
Link: https://doi.org/10.1016/..
 
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2

Genetic screening reveals hotspot variants and prevalence r..:

Hu, Xuyun ; Guo, Ruolan ; Qi, Zhan...
Clinica Chimica Acta.  561 (2024)  - p. 119813 , 2024
Link: https://doi.org/10.1016/..
 
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3

Phenylalanyl-tRNA synthetase deficiency caused by biallelic..:

Guo, Ruolan ; Chen, Yuanying ; Hu, Xuyun...
BMC Medical Genomics.  16 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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4

Retraction Notice to: Silencing of Long Non-coding RNA HOTT..:

Hu, Xumin ; Tang, Jianhua ; Hu, Xuyun...
Molecular Therapy - Nucleic Acids.  28 (2022)  - p. 637 , 2022
Link: https://doi.org/10.1016/..
 
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5

Novel pathogenic variants in KIT gene in three Chinese pieb..:

Wang, Chen ; Zhang, Yingzi ; Hu, Xuyun...
Frontiers in Medicine.  9 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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6

Newborn screening with targeted sequencing: a multicenter i..:

Hao, Chanjuan ; Guo, Ruolan ; Hu, Xuyun...
Journal of Genetics and Genomics.  49 (2022)  1 - p. 13-19 , 2022
Link: https://doi.org/10.1016/..
 
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7

Exome sequencing as the first‐tier test for pediatric respi..:

Hao, Chanjuan ; Guo, Ruolan ; Liu, Jun...
Human Mutation.  42 (2021)  7 - p. 891-900 , 2021
Link: https://doi.org/10.1002/..
 
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8

Whole exome sequencing for non-selective pediatric patients..:

Hu, Xuyun ; Chen, Lamei ; Gong, Chunxiu...
Gene.  768 (2021)  - p. 145310 , 2021
Link: https://doi.org/10.1016/..
 
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9

Clinical Application of Whole Exome Sequencing for Monogeni..:

Liu, Yingchao ; Hao, Chanjuan ; Li, Kechun...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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10

Identification and functional analysis of novel SLC25A19 va..:

Chen, Yuanying ; Fang, Boliang ; Hu, Xuyun...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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11

The first two Chinese Myhre syndrome patients with the recu..:

Li, Hongdou ; Cheng, Bingjuan ; Hu, Xuyun...
Clinica Chimica Acta.  500 (2020)  - p. 128-134 , 2020
Link: https://doi.org/10.1016/..
 
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12

The first familial NSD2 cases with a novel variant in a Chi..:

Hu, Xuyun ; Wu, Di ; Li, Yuchuan...
BMC Medical Genomics.  13 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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13

Parallel Tests of Whole Exome Sequencing and Copy Number Va..:

Hu, Xuyun ; Guo, Ruolan ; Guo, Jun...
Frontiers in Genetics.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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14

Severe cases of BCGosis-susceptible primary immunodeficienc..:

Liu, Gang ; Xiao, Haijuan ; Liu, Linlin...
Journal of Genetics and Genomics.  47 (2020)  4 - p. 229-232 , 2020
Link: https://doi.org/10.1016/..
 
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15

RETRACTED: Silencing of Long Non-coding RNA HOTTIP Reduces ..:

Hu, Xumin ; Tang, Jianhua ; Hu, Xuyun...
Molecular Therapy - Nucleic Acids.  19 (2020)  - p. 468-481 , 2020
Link: https://doi.org/10.1016/..
 
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