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1 . Academic Journal
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
저자
by
Yupeng Liu
;
Xue Ma
;
Zhehui Chen
;
Ruxuan He
;
Yao Zhang
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)
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7 . Academic Journal
Association and mediation between educational attainment and respiratory diseases: a Mendelian randomization study
저자
by
Guohui Lan
;
Mengying Xie
;
Jieli Lan
;
Zelin Huang
;
Xiaowei Xie
, et al.
소스
Respiratory Research, Vol 25, Iss 1, Pp 1-11 (2024)
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7 . Academic Journal
A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review
저자
by
Zhenkun Zhang
;
Xiaofan Bie
;
Zhehui Chen
;
Jing Liu
;
Zhenhua Xie
, et al.
소스
BMC Pediatrics, Vol 24, Iss 1, Pp 1-8 (2024)
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7 . Academic Journal
Comparison of stromal vascular fraction cell composition between Coleman fat and extracellular matrix/stromal vascular fraction gel
저자
by
Xiaoyun Li
;
Guohong Zhang
;
Mengmeng Wang
;
Changhao Lu
;
Guangping Zhang
, et al.
소스
Adipocyte, Vol 13, Iss 1 (2024)
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7 . Academic Journal
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment
저자
by
Zhehui Chen
;
Hui Dong
;
Yupeng Liu
;
Ruxuan He
;
Jinqing Song
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
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7 . Academic Journal
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital
저자
by
Yi Liu
;
Zhehui Chen
;
Hui Dong
;
Yuan Ding
;
Ruxuan He
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
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7 . Academic Journal
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.
저자
by
Yupeng Liu
;
Zhehui Chen
;
Lulu Kang
;
Ruxuan He
;
Jinqing Song
, et al.
소스
PLoS ONE, Vol 17, Iss 3, p e0265766 (2022)
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7 . Academic Journal
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
저자
by
Ruxuan He
;
Ruo Mo
;
Ming Shen
;
Lulu Kang
;
Jinqing Song
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
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7 . Academic Journal
Comparison of hyperdry amniotic membrane transplantation and conjunctival autografting for primary pterygium
저자
by
Xin Pan
;
Daguang Zhang
;
Zhifang Jia
;
Zhehui Chen
;
Yuetian Su
.
소스
BMC Ophthalmology, Vol 18, Iss 1, Pp 1-6 (2018)
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7 .
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency
저자
by
Xiyue Zhou
;
Xiaoting Lou
;
Yuwei Zhou
;
Yaojun Xie
;
Xinyu Han
, et al.
소스
Journal of Human Genetics
. 68:239-246
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