Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing
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| Format: | Online |
| Language: | English |
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BioMed Central
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4518614/ |
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pubmed-4518614 |
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pubmed-45186142015-08-03 Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing Bachmann-Gagescu, R Dempsey, J Phelps, IG Isabella, C O'Day, D O'Roak, B Shendure, J Glass, I Doherty, D Poster Presentation BioMed Central 2015-07-13 /pmc/articles/PMC4518614/ http://dx.doi.org/10.1186/2046-2530-4-S1-P8 Text en Copyright © 2015 Bachmann-Gagescu et al. http://creativecommons.org/licenses/by/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Bachmann-Gagescu, R Dempsey, J Phelps, IG Isabella, C O'Day, D O'Roak, B Shendure, J Glass, I Doherty, D |
| spellingShingle |
Bachmann-Gagescu, R Dempsey, J Phelps, IG Isabella, C O'Day, D O'Roak, B Shendure, J Glass, I Doherty, D Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing |
| author_facet |
Bachmann-Gagescu, R Dempsey, J Phelps, IG Isabella, C O'Day, D O'Roak, B Shendure, J Glass, I Doherty, D |
| author_sort |
Bachmann-Gagescu, R |
| title |
Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing |
| title_short |
Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing |
| title_full |
Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing |
| title_fullStr |
Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing |
| title_full_unstemmed |
Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing |
| title_sort |
genotype-phenotype correlations in joubert syndrome in the era of next generation sequencing |
| description |
|
| publisher |
BioMed Central |
| publishDate |
2015 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4518614/ |
| _version_ |
1613253521957715968 |