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中国医学科学院 北京... [5]
复旦大学上海医学院 [3]
山东大学 [2]
湖南大学 [2]
北京大学 [1]
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期刊论文 [15]
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Linear mixed models for association analysis of quantitative traits with next-generation sequencing data
期刊论文
GENETIC EPIDEMIOLOGY, 2019, 卷号: 43, 期号: 2
作者:
Chiu, Chi-yang
;
Yuan, Fang
;
Zhang, Bingsong
;
Yuan, Ao
;
Li, Xin
收藏
  |  
浏览/下载:19/0
  |  
提交时间:2019/12/04
common variants
complex diseases
functional data analysis
functional linear mixed models
linear mixed models
rare variants
Pulmonary inflammatory myofibroblastic tumour and IgG(4)-related disease presenting with lower limb paralysis
期刊论文
2019, 卷号: 74, 期号: 3, 页码: 313-314
作者:
Zhang, Shuo
;
Zhang, Shangzhu
;
Zhang, Wen
;
He, Jia
;
Shi, Juhong
收藏
  |  
浏览/下载:1/0
  |  
提交时间:2020/01/03
histology/cytology
rare lung diseases
thoracic surgery
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
期刊论文
2019, 卷号: 104, 期号: 3, 页码: 439-453
作者:
Chang, Hae Ryung
;
Cho, Sung Yoon
;
Lee, Jae Hoon
;
Lee, Eunkyung
;
Seo, Jieun
收藏
  |  
浏览/下载:34/0
  |  
提交时间:2020/01/03
DNA repair
DNA replication
SPONASTRIME dysplasia
TONSL
rare genetic diseases
short stature
skeletal dysplasia
whole-exome sequencing
China has officially released its first national list of rare diseases
期刊论文
INTRACTABLE & RARE DISEASES RESEARCH, 2018, 卷号: 7, 期号: 2
作者:
He, Jiangjiang
;
Kang, Qi
;
Hu, Jiahao
;
Song, Peipei
;
Jin, Chunlin
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/05
Rare diseases
disease classification
disease management
orphan drugs
Mutations in WDR4 as a new cause of Galloway–Mowat syndrome
期刊论文
American Journal of Medical Genetics Part A, 2018, 卷号: Vol.176 No.11, 页码: 2460-2465
作者:
Daniela A. Braun
;
Shirlee Shril
;
Aditi Sinha
;
Ronen Schneider
;
Weizhen Tan
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/26
Galloway–Mowat
syndrome
Mendelian
diseases
rare
syndromic
diseases
variable
phenotypic
expressivity
whole‐exome
sequencing
Replacement Therapies in Metabolic Disease
期刊论文
CURRENT PHARMACEUTICAL BIOTECHNOLOGY, 2018, 卷号: Vol.19 No.5, 页码: 382-399
作者:
Keller, Alexander S.
;
Keller, T. C. Stevenson
;
DeLalio, Leon J.
;
Shahab, Guleer
;
Yang, Yang
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/26
Rare
diseases
metabolic
disease
lysosomal
storage
disorder
gene
therapy
recombinant
enzymes
enzyme
replacement
therapy
Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia A case report
期刊论文
2018, 卷号: 97, 期号: 45, 页码: e12822
作者:
Kang, Jia
;
Mao, Meng
;
Zhang, Ye
;
Ai, Fang-Fang
;
Zhu, Lan
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2020/01/03
distal vaginal atresia
mullerian duct abnormality
rare diseases
VACTERL association
National Rare Diseases Registry System of China and Related Cohort Studies: Vision and Roadmap
期刊论文
2018, 卷号: 29, 期号: 2,SI, 页码: 128-135
作者:
Feng, Shi
;
Liu, Shuang
;
Zhu, Chong
;
Gong, Mengchun
;
Zhu, Yicheng
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/03
rare diseases
patient registry
cohort study
medical informatics
genomics
Lack of a pulmonary vein causing unilateral interlobular septal thickening
期刊论文
2018, 卷号: 73, 期号: 2, 页码: 199-200
作者:
Wang Hanping
;
Zhang Li
;
Liu Wei
;
Xu Kai-Feng
;
Shi Juhong
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2020/01/03
bronchoscopy
imaging/ct mri etc
rare lung diseases
Epidemiological research, scientific research, and applied research on rare diseases in China: current challenges and prospects for the future
期刊论文
EXPERT OPINION ON ORPHAN DRUGS, 2017, 卷号: 5, 期号: 1, 页码: 37-44
作者:
Tang, Qi
;
Song, Peipei
;
Mei, Lin
;
Xu, Lingzhong
;
Tang, Wei
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/16
Rare diseases
orphan drugs
scientific research
national plan
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