Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
dc.contributor.author | Crawford, J | |
dc.contributor.author | Cristofori-Armstrong, B | |
dc.contributor.author | Miller, D | |
dc.contributor.author | Simons, C | |
dc.contributor.author | Rash, LD | |
dc.contributor.author | Ma, L | |
dc.contributor.author | Grimmond, SM | |
dc.contributor.author | King, GF | |
dc.contributor.author | Gabbett, MT | |
dc.contributor.author | Taft, RJ | |
dc.contributor.author | Yesil, Gözde | |
dc.contributor.author | Cleary, JG | |
dc.contributor.author | Yuksel, A | |
dc.contributor.author | Guler, S | |
dc.contributor.author | Shen, J | |
dc.contributor.author | Verloes, A | |
dc.contributor.author | Debray, FG | |
dc.contributor.author | Jacquinet, A | |
dc.contributor.author | Alanay, Y | |
dc.contributor.author | Baillie, GJ | |
dc.contributor.author | Ru, K | |
dc.contributor.author | McGaughran, J | |
dc.date.accessioned | 2021-03-05T13:51:23Z | |
dc.date.available | 2021-03-05T13:51:23Z | |
dc.identifier.citation | Simons C., Rash L., Crawford J., Ma L., Cristofori-Armstrong B., Miller D., Ru K., Baillie G., Alanay Y., Jacquinet A., et al., "Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.", Nature genetics, cilt.47, ss.73-7, 2015 | |
dc.identifier.issn | 1061-4036 | |
dc.identifier.other | av_b43a3a6d-ccb0-4d93-935e-fc42b3a7f9c7 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/120028 | |
dc.identifier.uri | https://doi.org/10.1038/ng.3153 | |
dc.language.iso | eng | |
dc.title | Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. | |
dc.type | Makale | |
dc.relation.journal | Nature genetics | |
dc.contributor.department | , , | |
dc.identifier.volume | 47 | |
dc.identifier.startpage | 73 | |
dc.identifier.endpage | 7 | |
dc.contributor.firstauthorID | 1042980 |
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