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1 . Academic Journal
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy
저자
by
Xinzhuang Yang
;
Dingding Zhang
;
Si Shen
;
Pidong Li
;
Mengjie Li
, et al.
소스
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
Open Access (BioMed Central)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants
저자
by
Wen Tian
;
Yingzhao Huang
;
Liying Sun
;
Yang Guo
;
Sen Zhao
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Open Access (BioMed Central)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Whole-Genome Methylation Analysis of Phenotype Discordant Monozygotic Twins Reveals Novel Epigenetic Perturbation Contributing to the Pathogenesis of Adolescent Idiopathic Scoliosis
저자
by
Gang Liu
;
Lianlei Wang
;
Xinyu Wang
;
Zihui Yan
;
Xinzhuang Yang
, et al.
소스
Frontiers in Bioengineering and Biotechnology, Vol 7 (2019)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Fat Mass and Obesity-Associated (FTO) Gene Polymorphisms Are Associated with Risk of Intervertebral Disc Degeneration in Chinese Han Population: A Case Control Study.
저자
by
Jia Chen
;
Qiankun Zhu
;
Gang Liu
;
Xinzhuang Yang
;
Sen Zhao
, et al.
소스
Medical Science Monitor; 8/12/2018, Vol. 24, p5598-5609, 12p
Scopus
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7 .
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
저자
by
Shaoke Chen
;
Mei Li
;
Jennifer E Posey
;
Yue Ming
;
Yanning Song
, et al.
소스
Journal of Genetics and Genomics
. 48:396-402
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7 .
Association Study Identified HLA-DQA1 as a Novel Genetic Risk of Systemic Lupus Erythematosus-Associated Pulmonary Arterial Hypertension
저자
by
Junyan Qian
;
Ying Chen
;
Xinzhuang Yang
;
Qian Wang
;
jiuliang zhao
, et al.
소스
SSRN Electronic Journal
.
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7 .
Identification of novel FBN1 variations implicated in congenital scoliosis
저자
by
Guixing Qiu
;
Shiro Ikegawa
;
Xu Yang
;
Yuanqiang Zhang
;
Sen Liu
, et al.
소스
Journal of Human Genetics
Open Access (OpenAIRE)
Web of Science
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7 .
Expansion of 5’ UTR CGG repeat in RILPL1 is associated with oculopharyngodistal myopathy
저자
by
Xinzhuang Yang
;
Yang Wang
;
Yi-Cheng Zhu
;
Chao Ling
;
Haitao Ren
, et al.
소스
Open Access (OpenAIRE)
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7 .
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants
저자
by
Mao Lin
;
Yuanqiang Zhang
;
Jiachen Lin
;
Guixing Qiu
;
Xiying Dong
, et al.
소스
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Open Access (OpenAIRE)
요약보기
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7 .
Additional file 1 of Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants
저자
by
Tian, Wen
;
Yingzhao Huang
;
Liying Sun
;
Guo, Yang
;
Zhao, Sen
, et al.
소스
Open Access (OpenAIRE)
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