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Year | Number of Results |
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1994 | 1 |
2014 | 1 |
2015 | 2 |
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Mutations in PAX3 associated with Waardenburg syndrome type I.
Hum Mutat. 1994;3(3):205-11. doi: 10.1002/humu.1380030306.
Hum Mutat. 1994.
PMID: 8019556
Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.
Jalilian N, Tabatabaiefar MA, Farhadi M, Bahrami T, Emamdjomeh H, Noori-Daloii MR.
Jalilian N, et al.
Gene. 2015 Dec 15;574(2):302-7. doi: 10.1016/j.gene.2015.08.023. Epub 2015 Aug 11.
Gene. 2015.
PMID: 26275939
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Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.
Sun L, Li X, Shi J, Pang X, Hu Y, Wang X, Wu H, Yang T.
Sun L, et al.
Sci Rep. 2016 Oct 19;6:35498. doi: 10.1038/srep35498.
Sci Rep. 2016.
PMID: 27759048
Free PMC article.
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RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.
Xiong HY, et al.
Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.
Science. 2015.
PMID: 25525159
Free PMC article.
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