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Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy
| Autores principales: | , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3555943/ http://dx.doi.org/10.1186/2046-2530-1-S1-P80 |
| _version_ | 1782257109533982720 |
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| author | Arts, H Schmidts, M Bongers, EMHF Oud, MM Duijkers, LEM Yap, Z Stalker, J Yntema, JL Hoischen, A Gilissen, C Veltman, JA Kutkowska-Kaźmierczak, A Kamsteeg, EJ Scambler, PJ Beales, PL Knoers, NVAM Roepman, R Mitchison, HM |
| author_facet | Arts, H Schmidts, M Bongers, EMHF Oud, MM Duijkers, LEM Yap, Z Stalker, J Yntema, JL Hoischen, A Gilissen, C Veltman, JA Kutkowska-Kaźmierczak, A Kamsteeg, EJ Scambler, PJ Beales, PL Knoers, NVAM Roepman, R Mitchison, HM |
| author_sort | Arts, H |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-3555943 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2012 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-35559432013-01-31 Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy Arts, H Schmidts, M Bongers, EMHF Oud, MM Duijkers, LEM Yap, Z Stalker, J Yntema, JL Hoischen, A Gilissen, C Veltman, JA Kutkowska-Kaźmierczak, A Kamsteeg, EJ Scambler, PJ Beales, PL Knoers, NVAM Roepman, R Mitchison, HM Cilia Poster Presentation BioMed Central 2012-11-16 /pmc/articles/PMC3555943/ http://dx.doi.org/10.1186/2046-2530-1-S1-P80 Text en Copyright ©2012 Arts et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Poster Presentation Arts, H Schmidts, M Bongers, EMHF Oud, MM Duijkers, LEM Yap, Z Stalker, J Yntema, JL Hoischen, A Gilissen, C Veltman, JA Kutkowska-Kaźmierczak, A Kamsteeg, EJ Scambler, PJ Beales, PL Knoers, NVAM Roepman, R Mitchison, HM Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy |
| title | Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy |
| title_full | Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy |
| title_fullStr | Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy |
| title_full_unstemmed | Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy |
| title_short | Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy |
| title_sort | pitfalls of whole exome-sequencing: hidden dync2h1 mutations in patients with jeune asphyxiating thoracic dystrophy |
| topic | Poster Presentation |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3555943/ http://dx.doi.org/10.1186/2046-2530-1-S1-P80 |
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