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内部出版物
SpringerLink电子期刊(4)
Elsevier电子期刊(10)
在“
SpringerLink电子期刊
”中,
命中:
4
条,耗时:小于0.01 秒
在所有数据库中总计命中:
14
条
1.
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
作者:
Magdalena Koczkowska
;
Jolanta Wierzba
;
Robert Śmigiel…
关键词:
22q11.2 deletion syndrome
;
Array comparative genomic hybridization
;
17q21.31
microdeletion
syndrome
;
NF1 microduplication syndrome
;
chromosome 6p25.3p25.2 deletion
;
NAALADL2
刊名:Journal of Applied Genetics
出版年:2017
2.
The first patient with a pure
1p36
microtriplication associated with severe clinical phenotypes
作者:
Fang Xu (1) (2)
Ya-Nan Zhang (1)
De-Hua Cheng (1) (2)
Ke Tan (1) (3)
Chang-Gao Zhong (1) (2)
Guang-Xiu Lu (1) (2) (3)
Ge Lin (1) (2) (3)
Yue-Qiu Tan (1) (2)
1. Institute of Reproduction and Stem Cell Engineering
;
Central South University
;
110# Xiangya Road
;
Changsha
;
Hunan
;
410078
;
PR China
2. Reproductive and Genetic Hospital of Citic-Xiangya
;
Changsha
;
Hunan
;
410078
;
PR China
3. National Engineering and Research Center of Human Stem Cell
;
Changsha
;
410078
;
PR China
关键词:
Copy number variations
;
1p36
microtriplication
;
1p36
microdeletion
;
Single nucleotide polymorphism microarray
刊名:Molecular Cytogenetics
出版年:2014
3.
Left Ventricular Non-compaction: Is It Genetic?
作者:
Teck Wah Ting
;
Saumya Shekhar Jamuar
;
Maggie Siewyan Brett…
关键词:
1p36
Deletion syndrome
;
Left ventricular non
;
compaction
;
Developmental delay
;
Review of genetic etiology
;
Diagnostic algorithm
刊名:Pediatric Cardiology
出版年:2015
4.
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes
作者:
Carla S D’Angelo
;
Monica C Varela
;
Cláudia IE de Castro…
关键词:
Obesity
;
Developmental delay
;
Copy number variants (CNVs)
;
Multiplex ligation
;
dependent probe amplification (MLPA)
;
Chromosomal microarray analysis (CMA)
刊名:Molecular Cytogenetics
出版年:2014
1
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