Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome (English)
- New search for: Dinwiddie, Darrell L.
- New search for: Smith, Laurie D.
- New search for: Miller, Neil A.
- New search for: Atherton, Andrea M.
- New search for: Farrow, Emily G.
- New search for: Strenk, Meghan E.
- New search for: Soden, Sarah E.
- New search for: Saunders, Carol J.
- New search for: Kingsmore, Stephen F.
- New search for: Dinwiddie, Darrell L.
- New search for: Smith, Laurie D.
- New search for: Miller, Neil A.
- New search for: Atherton, Andrea M.
- New search for: Farrow, Emily G.
- New search for: Strenk, Meghan E.
- New search for: Soden, Sarah E.
- New search for: Saunders, Carol J.
- New search for: Kingsmore, Stephen F.
In:
Genomics
;
102
, 3
;
148-156
;
2013
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ISSN:
- Article (Journal) / Electronic Resource
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Title:Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome
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Contributors:Dinwiddie, Darrell L. ( author ) / Smith, Laurie D. ( author ) / Miller, Neil A. ( author ) / Atherton, Andrea M. ( author ) / Farrow, Emily G. ( author ) / Strenk, Meghan E. ( author ) / Soden, Sarah E. ( author ) / Saunders, Carol J. ( author ) / Kingsmore, Stephen F. ( author )
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Published in:Genomics ; 102, 3 ; 148-156
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Publisher:
- New search for: Elsevier Inc.
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Publication date:2013-04-19
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Size:9 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Keywords:
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Source:
Table of contents – Volume 102, Issue 3
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 137
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Translational utility of next-generation sequencingOng, Frank S. / Lin, Jimmy C. / Das, Kingshuk / Grosu, Daniel S. / Fan, Jian-Bing et al. | 2013
- 140
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Clinical genomics information management software linking cancer genome sequence and clinical decisionsWatt, Stuart / Jiao, Wei / Brown, Andrew M.K. / Petrocelli, Teresa / Tran, Ben / Zhang, Tong / McPherson, John D. / Kamel-Reid, Suzanne / Bedard, Philippe L. / Onetto, Nicole et al. | 2013
- 148
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Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genomeDinwiddie, Darrell L. / Smith, Laurie D. / Miller, Neil A. / Atherton, Andrea M. / Farrow, Emily G. / Strenk, Meghan E. / Soden, Sarah E. / Saunders, Carol J. / Kingsmore, Stephen F. et al. | 2013
- 157
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Multiplexed deep sequencing analysis of ALK kinase domain identifies resistance mutations in relapsed patients following crizotinib treatmentHuang, Donghui / Kim, Dong-Wan / Kotsakis, Athanasios / Deng, Shibing / Lira, Paul / Ho, Steffan N. / Lee, Nathan V. / Vizcarra, Pamela / Cao, Joan Q. / Christensen, James G. et al. | 2013
- 163
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Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathiesPalma, Alessia / Gianchecchi, Elena / Palombi, Melania / Luciano, Rosa / Di Carlo, Pierluigi / Crinò, Antonino / Cappa, Marco / Fierabracci, Alessandra et al. | 2013
- 169
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Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencingYang, Yao / Wu, Jian / Liu, Haihong / Chen, Xiaochun / Wang, Ying / Zhao, Mancang / He, Xiyu et al. | 2013
- 174
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Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisationHayes, J.L. / Tzika, A. / Thygesen, H. / Berri, S. / Wood, H.M. / Hewitt, S. / Pendlebury, M. / Coates, A. / Willoughby, L. / Watson, C.M. et al. | 2013
- 182
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Targeted resequencing of 9p in acute lymphoblastic leukemia yields concordant results with array CGH and reveals novel genomic alterationsSarhadi, Virinder Kaur / Lahti, Leo / Scheinin, Ilari / Tyybäkinoja, Anne / Savola, Suvi / Usvasalo, Anu / Räty, Riikka / Elonen, Erkki / Ellonen, Pekka / Saarinen-Pihkala, Ulla M. et al. | 2013
- IFC
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Editorial Board| 2013