From cytogenetics to cytogenomics: whole genome sequencing as a comprehensive genetic test in rare disease diagnostics

被引：0

作者：

Nilsson, D. ^{[1
,2
,3
]}

Eisfeldt, J. ^{[1
,2
,3
]}

Lundin, J. ^{[1
,3
,4
]}

Pettersson, M. ^{[1
,3
,5
]}

Kvarnung, M. ^{[1
,3
,5
]}

Lieden, A. ^{[1
,3
,5
]}

Sahlin, E. ^{[1
,3
,5
]}

Lagerstedt, K. ^{[1
,3
,5
]}

Martin, M. ^{[6
]}

Ygberg, S. ^{[7
,8
]}

Bjerin, O. ^{[7
]}

Stranneheim, H. ^{[2
,3
,8
]}

Wedell, A. ^{[2
,3
,8
]}

Nordenskjold, M. ^{[1
,3
,5
]}

Soller, M. Johansson ^{[1
,3
,5
]}

Nordgren, A. ^{[1
,3
,5
]}

Wirta, V. ^{[9
,10
]}

Lindstrand, A. ^{[1
,3
,5
]}

机构：

[1] Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden

[2] Karolinska Inst, Dept Mol Med & Surg, SciLifeLab, Stockholm, Sweden

[3] Karolinska Inst, Ctr Mol Med, Stockholm, Sweden

[4] Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden

[5] Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden

[6] Stockholm Univ, Natl Bioinformat Infrastruct Sweden, Sci Life Lab, Dept Biochem & Biophys, Solna, Sweden

[7] Karolinska Inst, Inst Womens & Childrens Hlth, Neuropediat Unit, Stockholm, Sweden

[8] Karolinska Univ Hosp, Ctr Inherited Metab Dis, Stockholm, Sweden

[9] KTH Royal Inst Technol, Sch Engn Sci Chem Biotechnol & Hlth, SciLifeLab, Stockholm, Sweden

[10] Karolinska Inst, Dept Microbiol Tumor & Cell Biol, SciLifeLab, Stockholm, Sweden

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P14.113D

引用

页码：1666 / 1667

页数：2

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