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Common functional networks in the mouse brain revealed by multi-centre resting-state fMRI analysis
期刊论文
NEUROIMAGE, 2020, 卷号: 205, 页码: 11
作者:
Grandjean, Joanes
;
Canella, Carola
;
Anckaerts, Cynthia
;
Ayranci, Gulebru
;
Bougacha, Salma
收藏
  |  
浏览/下载:24/0
  |  
提交时间:2020/03/30
Functional connectivity
Default-mode network
ICA
Seed-based
Connectome
A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects
期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 8
作者:
Sheng, Wei
;
Li, Xiaodi
;
Sun, Liqun
;
Huang, Guoying
;
Chen, Weicheng
收藏
  |  
浏览/下载:18/0
  |  
提交时间:2019/12/05
22q11
2 microdeletion syndrome
chromosomal microarray analysis
fluorescence in situ hybridisation
mosaic fetal conotruncal defects
A novel deletion with two pathogenic variants of UGT1A1 causing Crigler-Najjar syndrome in two unrelated Chinese
期刊论文
CLINICAL BIOCHEMISTRY, 2019, 卷号: 71
作者:
Li, Wanxing
;
Yang, Lin
;
Zhou, Wenhao
;
Zhou, Youyou
收藏
  |  
浏览/下载:17/0
  |  
提交时间:2019/12/05
Crigler-Najjar syndrome type I (CNS-I)
Crigler-Najjar syndrome type II (CNS-II)
Hyperbilirubinemia
Microdeletion
Compound heterozygous
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
期刊论文
Genetics in Medicine, 2019
作者:
Desheng Liang
;
David S. Cram
;
Hu Tan
;
Siyuan Linpeng
;
Yingdi Liu
收藏
  |  
浏览/下载:107/0
  |  
提交时间:2019/12/13
22q11.2 microdeletions
copy-number variation (CNV)
microdeletion/microduplication syndromes (MMS)
noninvasive prenatal screening
positive predictive value (PPV)
EXPLORING THE NEURODEVELOPMENTAL TRAJECTORY AND MODIFIER GENE OF 16P11.2 MICRODELETION USING INTRA AND INTER-FAMILY CARRIERS
会议论文
EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2019-01-01
作者:
Liang, Chen
;
Xie, Hua
;
Liu, Fang
;
Wu, Nan
;
Zhang, Yu
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2020/01/03
EXPLORING THE NEURODEVELOPMENTAL TRAJECTORY AND MODIFIER GENE OF 16P11.2 MICRODELETION USING INTRA AND INTER-FAMILY CARRIERS
期刊论文
2019, 卷号: 29, 页码: 1199-1199
作者:
Liang, Chen
;
Xie, Hua
;
Liu, Fang
;
Wu, Nan
;
Zhang, Yu
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2020/01/03
Role of male genetic factors in recurrent pregnancy loss in Northeast China
期刊论文
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2018, 卷号: 224
作者:
Dai, Rulin
;
Pan, Yuan
;
Fu, Yan
;
Liu, Qian
;
Han, Weifeng
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/05
Recurrent pregnancy loss
Male factor
Chromosomal heteromorphism
Y chromosome microdeletion
Molecular microdeletion analysis of infertile men with karyotypic Y chromosome abnormalities
期刊论文
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2018, 卷号: 46, 期号: 1
作者:
Pan, Yuan
;
Zhang, Hong-guo
;
Xi, Qi
;
Zhang, Han
;
Wang, Rui-xue
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/05
Male infertility
Y chromosome
karyotype
AZF microdeletion
oligozoospermia
azoospermia
Non-invasive Prenatal Diagnosis of Chromosomal Aneuploidies and Microdeletion Syndrome Using Fetal Nucleated Red Blood Cells Isolated by Nanostructure Microchips
期刊论文
THERANOSTICS, 2018, 卷号: 8, 期号: 5
作者:
Feng, Chun
;
He, Zhaobo
;
Cai, Bo
;
Peng, Jianhong
;
Song, Jieping
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/05
non-invasive prenatal diagnosis
fetal nucleated red blood cells
nanostructure microchip
chromosomal aneuploidy
microdeletion syndrome
Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family
期刊论文
MOLECULAR CYTOGENETICS, 2018, 卷号: 11
作者:
Zhang Kaihui
;
Huang Yan
;
Dong Rui
;
Yang Yali
;
Wang Ying
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/11
3q duplication syndrome
22q13.3 microdeletion syndrome
Balanced
translocation
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