A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing
- Author
- Isabelle Schrauwen, Manou Sommen, Jason J Corneveaux, Rebecca A Reiman, Nicole J Hackett, Charlotte Claes, Kathleen Claes (UGent) , Maria Bitner-Glindzicz, Paul Coucke (UGent) , Guy Van Camp and Matthew J Huentelman
- Organization
- Keywords
- hearing loss, deafness, microdroplet PCR, diagnostics, VESTIBULAR AQUEDUCT DFNB4, MOLECULAR DIAGNOSTICS, PENDRED SYNDROME, DEAFNESS GENES, MUTATIONS, FAMILIES, CAPTURE, PROTEIN, IMPAIRMENT, FREQUENCY
Downloads
-
(...).pdf
- full text
- |
- UGent only
- |
- |
- 144.34 KB
Citation
Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-3158432
- MLA
- Schrauwen, Isabelle, et al. “A Sensitive and Specific Diagnostic Test for Hearing Loss Using a Microdroplet PCR-Based Approach and next Generation Sequencing.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol. 161A, no. 1, 2013, pp. 145–52, doi:10.1002/ajmg.a.35737.
- APA
- Schrauwen, I., Sommen, M., Corneveaux, J. J., Reiman, R. A., Hackett, N. J., Claes, C., … Huentelman, M. J. (2013). A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 161A(1), 145–152. https://doi.org/10.1002/ajmg.a.35737
- Chicago author-date
- Schrauwen, Isabelle, Manou Sommen, Jason J Corneveaux, Rebecca A Reiman, Nicole J Hackett, Charlotte Claes, Kathleen Claes, et al. 2013. “A Sensitive and Specific Diagnostic Test for Hearing Loss Using a Microdroplet PCR-Based Approach and next Generation Sequencing.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A 161A (1): 145–52. https://doi.org/10.1002/ajmg.a.35737.
- Chicago author-date (all authors)
- Schrauwen, Isabelle, Manou Sommen, Jason J Corneveaux, Rebecca A Reiman, Nicole J Hackett, Charlotte Claes, Kathleen Claes, Maria Bitner-Glindzicz, Paul Coucke, Guy Van Camp, and Matthew J Huentelman. 2013. “A Sensitive and Specific Diagnostic Test for Hearing Loss Using a Microdroplet PCR-Based Approach and next Generation Sequencing.” AMERICAN JOURNAL OF MEDICAL GENETICS PART A 161A (1): 145–152. doi:10.1002/ajmg.a.35737.
- Vancouver
- 1.Schrauwen I, Sommen M, Corneveaux JJ, Reiman RA, Hackett NJ, Claes C, et al. A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013;161A(1):145–52.
- IEEE
- [1]I. Schrauwen et al., “A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing,” AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol. 161A, no. 1, pp. 145–152, 2013.
@article{3158432, author = {{Schrauwen, Isabelle and Sommen, Manou and Corneveaux, Jason J and Reiman, Rebecca A and Hackett, Nicole J and Claes, Charlotte and Claes, Kathleen and Bitner-Glindzicz, Maria and Coucke, Paul and Van Camp, Guy and Huentelman, Matthew J}}, issn = {{1552-4825}}, journal = {{AMERICAN JOURNAL OF MEDICAL GENETICS PART A}}, keywords = {{hearing loss,deafness,microdroplet PCR,diagnostics,VESTIBULAR AQUEDUCT DFNB4,MOLECULAR DIAGNOSTICS,PENDRED SYNDROME,DEAFNESS GENES,MUTATIONS,FAMILIES,CAPTURE,PROTEIN,IMPAIRMENT,FREQUENCY}}, language = {{eng}}, number = {{1}}, pages = {{145--152}}, title = {{A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing}}, url = {{http://doi.org/10.1002/ajmg.a.35737}}, volume = {{161A}}, year = {{2013}}, }
- Altmetric
- View in Altmetric
- Web of Science
- Times cited: