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Guo, Ruolan
192  results:
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1

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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2

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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3

NeuroCNVscore: a tissue-specific framework to prioritise th..:

Liu, Xuanshi ; Xu, Wenjian ; Leng, Fei...
BMJ Paediatrics Open.  7 (2023)  1 - p. e001966 , 2023
Link: https://doi.org/10.1136/..
 
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4

Case report: Clinical features and prognosis of two Infants..:

Yang, Peiyi ; Xu, Na ; Su, Yan...
Frontiers in Oncology.  12 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

DVsc: An Automated Framework for Efficiently Detecting Vira..:

Leng, Fei ; Mei, Song ; Zhou, Xiaolin...
Genomics, Proteomics & Bioinformatics.  , 2023
Link: https://doi.org/10.1093/..
 
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6

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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7

Biallelic inactivation of SDHA results in comorbidity of pe..:

Shen, Yang ; Zhang, Shixuan ; Zhao, Wen...
Genes & Diseases.  , 2023
Link: https://doi.org/10.1016/..
 
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8

Identification of novel homozygous nonsense SLC10A7 variant..:

Zhang, Wenyan ; Yao, Ziming ; Guo, Ruolan...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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9

Genetic diagnostic yields of 354 Chinese ASD children with ..:

Zhang, Yue ; Li, Ying ; Guo, Ruolan...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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10

Behavioural deficits of autism spectrum disorder and associ..:

Guo, Qi ; Xia, Lu ; Guo, Ruolan...
BMJ Paediatrics Open.  7 (2023)  1 - p. e001930 , 2023
Link: https://doi.org/10.1136/..
 
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11

Genotypes and clinical intervention of patients with neurof..:

Li, Haichong ; Zhang, Wenyan ; Yao, Ziming...
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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12

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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13

Identification of a novel variant in N-cadherin associated ..:

Chen, Yuanying ; Sun, Qiqing ; Hao, Chanjuan...
Frontiers in Medicine.  9 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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14

Molecular identification of T-box transcription factor 6 an..:

Zhang, Wenyan ; Yao, Ziming ; Guo, Ruolan...
Frontiers in Medicine.  9 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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15

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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