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1 . Academic Journal
Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report.
저자
by
Yang, Jun-Lin
;
Gu, Heng
;
Yuan, Zhuang-Zhuang
;
Xie, Xiao-Hui
;
Yang, Yi-Feng
, et al.
소스
BMC Medical Genomics
. 5/21/2024, Vol. 17 Issue 1, p1-6. 6p.
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
CircRNA Microarray Profiling Reveals hsa_circ_0058493 as a Novel Biomarker for Imatinib-Resistant CML.
저자
by
Zhong, An-Ni
;
Yin, Yi
;
Tang, Bing-Jie
;
Chen, Lei
;
Shen, Hong-Wei
, et al.
소스
Frontiers in Pharmacology; 9/13/2021, Vol. 12, p1-12, 12p
Web of Science
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7 . Academic Journal
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient
저자
by
Gu, Heng
;
Yuan, Zhuang-Zhuang
;
Xie, Xiao-Hui
;
Yang, Yi-Feng
;
Tan, Zhi-Ping
.
소스
Journal of Human Genetics
. 67(10):573-577
Web of Science
Scopus
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7 . Academic Journal
Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain.
저자
by
Xie, Xiao-hui
;
Tang, Jian-guang
;
Liu, Zhong-hua
;
Peng, Shui-jiao
;
Yuan, Zhuang-zhuang
, et al.
소스
Frontiers in Neuroscience; 7/14/2021, Vol. 15, p1-7, 7p
Web of Science
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7 . Academic Journal
Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia.
저자
by
Guo, Ting
;
Tu, Chao-Feng
;
Yang, Dan-Hui
;
Ding, Shui-Zi
;
Lei, Cheng
, et al.
소스
Human Genetics
. May2021, Vol. 140 Issue 5, p761-773. 13p.
Web of Science
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7 . Periodical
A novel nonsense PKD1L1variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient
저자
by
Gu, Heng
;
Yuan, Zhuang-Zhuang
;
Xie, Xiao-Hui
;
Yang, Yi-Feng
;
Tan, Zhi-Ping
.
소스
Journal of Human Genetics; 20220101, Issue: Preprints p1-5, 5p
Web of Science
Scopus
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7 . Academic Journal
Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly
저자
by
Luo, Hong
;
Xie, Li
;
Wang, Shou-Zheng
;
Chen, Jin-Lan
;
Huang, Can
, et al.
소스
In
European Journal of Medical Genetics
November 2012 55(11):646-649
Full Text (ScienceDirect)
Full Text (Clinical Key)
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7 .
A novel 7-chemokine-genes predictive signature for prognosis and therapeutic response in renal clear cell carcinoma
저자
by
Lin, Ming-Jie
;
Tang, Xiu-Xiao
;
Yao, Gao-Sheng
;
Tan, Zhi-Ping
;
Dai, Lei
, et al.
소스
Frontiers in Pharmacology
. 14
Open Access (OpenAIRE)
Scopus
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7 . Academic Journal
Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy.
저자
by
Fan, Liang-Liang
;
Chen, Ya-Qin
;
Huang, Hao
;
Jin, Jie-Yuan
;
Li, Jing-Jing
, et al.
소스
Cardiology in the Young; Dec2018, Vol. 28 Issue 12, p1410-1414, 5p
Web of Science
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7 . Academic Journal
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
저자
by
Zeng, Hui
;
Tang, Jian-Guang
;
Yang, Yi-Feng
;
Tan, Zhi-Ping
;
Tan, Jie-Qiong
.
소스
Cytogenetic & Genome Research
. Aug2017, Vol. 152 Issue 1, p16-21. 6p.
Web of Science
Scopus
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