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1 . Academic Journal
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
저자
by
Zheng, Wanqi
;
Duan, Ying
;
Xia, Yu
;
Liang, Lili
;
Gong, Zhuwen
, et al.
소스
Orphanet Journal of Rare Diseases
. 18(1)
Open Access (BioMed Central)
Web of Science
Scopus
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7 . Academic Journal
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome
저자
by
Du, Taozi
;
Xia, Yu
;
Sun, Chengkai
;
Gong, Zhuwen
;
Liang, Lili
, et al.
소스
Orphanet Journal of Rare Diseases
. 19(1)
Open Access (BioMed Central)
Web of Science
Scopus
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7 . Academic Journal
五例cblX型甲基丙二酸血症患儿的临床特征及基因型分析 / Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia
저자
by
王斐
;
梁黎黎
;
凌诗颖
;
于玥
;
陈婷
, et al.
소스
浙江大学学报(医学版) / Journal of Zhejiang University(Medical Sciences)
. 51(3):298-305
Scopus
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7 . Academic Journal
Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays
저자
by
Fan, Yanjie
;
Wang, Lili
;
Sun, Yu
;
Xu, Ting
;
Gong, Zhuwen
, et al.
소스
Journal of Human Genetics
. 66(4):409-417
Web of Science
Scopus
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7 . Academic Journal
Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type
저자
by
Chen, Ting
;
Liang, Lili
;
Zhang, Huiwen
;
Ye, Jun
;
Qiu, Wenjuan
, et al.
소스
Orphanet Journal of Rare Diseases
. 16(1)
Open Access (BioMed Central)
Web of Science
Scopus
JCR 저널정보
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7 .
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia
저자
by
Xiaomei Luo
;
Ruifang Wang
;
Yu Sun
;
Wenjuan Qiu
;
Deyun Lu
, et al.
소스
The Journal of Molecular Diagnostics
. 25:284-294
Full Text (Clinical Key)
Web of Science
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7 .
Research on a Target Detection Method for Alternanthera Philoxeroides in the Rice Seedling Stage Based on Single-Shot Multibox Detector
저자
by
Xiangwu Deng
;
Zhuwen Liu
;
Kunsong Gong
;
Song Liang
;
Guangjun Qiu
, et al.
소스
Scientific Programming
. 2023:1-10
Open Access (OpenAIRE)
Scopus
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7 . Academic Journal
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
저자
by
Liang, Lili
;
Shuai, Ruixue
;
Yu, Yue
;
Qiu, Wenjuan
;
Shen, Linghua
, et al.
소스
Orphanet Journal of Rare Diseases
. 16(1)
Open Access (BioMed Central)
Web of Science
Scopus
JCR 저널정보
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Export
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7 . Periodical
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
저자
by
Liang, Lili
;
Ling, Shiying
;
Yu, Yue
;
Shuai, Ruixue
;
Qiu, Wenjuan
, et al.
소스
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 1 p8-17, 10p
Full Text (BMJ Journals)
Web of Science
Scopus
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7 . Academic Journal
假性缺陷等位基因影响糖原贮积病Ⅱ型的新生儿筛查 / Pseudodeficiency alleles affect the newborn screening of glycogen storage disease typeⅡ
저자
by
陈婷
;
邱文娟
;
孙昱
;
王建国
;
龚珠文
, et al.
소스
中华检验医学杂志 / Chinese Journal of Laboratory Medicine
. 42(12):1031-1036
Scopus
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