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2012 | 2 |
2013 | 1 |
2024 | 0 |
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Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Hum Mutat. 2013 Feb;34(2):296-300. doi: 10.1002/humu.22241. Epub 2012 Nov 27.
Hum Mutat. 2013.
PMID: 23086778
Free PMC article.
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.
Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H.
Sailer A, et al.
Neurology. 2012 Jul 10;79(2):127-31. doi: 10.1212/WNL.0b013e31825f048e. Epub 2012 Jun 6.
Neurology. 2012.
PMID: 22675081
Free PMC article.
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