共 50 条
- [31] SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic functionHUMAN MOLECULAR GENETICS, 2011, 20 (12) : 2297 - 2307Fassio, AnnaPatry, LysanneCongia, SoniaOnofri, FrancoPiton, AmelieGauthier, JuliePozzi, DavideMessa, MirkoDefranchi, EnricoFadda, ManuelaCorradi, AnnaBaldelli, PietroLapointe, LineSt-Onge, JudithMeloche, CarolineMottron, LaurentValtorta, FlaviaDang Khoa NguyenRouleau, Guy A.Benfenati, FabioCossette, Patrick
- [32] Loss-of-function uORF mutations in human malignanciesScientific Reports, 8Julia SchulzNancy MahMartin NeuenschwanderTabea KischkaRichard RateiPeter M. SchlagEsmeralda Castaños-VélezIduna FichtnerPer-Ulf TunnCarsten DenkertOliver KlaasWolfgang E. BerdelJens P. von KriesWojciech MakalowskiMiguel A. Andrade-NavarroAchim LeutzKlaus Wethmar
- [33] GFP Loss-of-Function Mutations in Arabidopsis thalianaG3-GENES GENOMES GENETICS, 2015, 5 (09): : 1849 - 1855Fu, Jason L.Kanno, TatsuoLiang, Shih-ChiehMatzke, Antonius J. M.Matzke, Marjori
- [34] Computational Study of the Loss-of-Function Mutations in the Kv1.5 Channel Associated with Atrial FibrillationACS OMEGA, 2018, 3 (08): : 8882 - 8890Rashid, Md HarunurKuyucak, Serdar
- [35] Loss-of-function uORF mutations in human malignanciesSCIENTIFIC REPORTS, 2018, 8Schulz, JuliaMah, NancyNeuenschwander, MartinKischka, TabeaRatei, RichardSchlag, Peter M.Castanos-Velez, EsmeraldaFichtner, IdunaTunn, Per-UlfDenkert, CarstenKlaas, OliverBerdel, Wolfgang E.von Kries, Jens P.Makalowski, WojciechAndrade-Navarro, Miguel A.Leutz, AchimWethmar, Klaus
- [36] Novel KCNA5 loss-of-function mutations responsible for atrial fibrillationJOURNAL OF HUMAN GENETICS, 2009, 54 (05) : 277 - 283Yang, YiqingLi, JunLin, XiaopingYang, YanzongHong, KuiWang, LeiLiu, JinqiuLi, LiYan, DinghongLiang, DandanXiao, JunjieJin, HongmeiWu, JieZhang, YangyangChen, Yi-Han
- [37] NOVEL IMMUNODYSREGULATION DISORDER CAUSED BY LOSS-OF-FUNCTION MUTATIONS IN SBNO2JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (03) : 275 - 275Jing, HuieDove, ChristopherZhang, YuPrice, SusanKoneti, RaoSu, Helen C.
- [38] Novel KCNA5 loss-of-function mutations responsible for atrial fibrillationJournal of Human Genetics, 2009, 54 : 277 - 283Yiqing YangJun LiXiaoping LinYanzong YangKui HongLei WangJinqiu LiuLi LiDinghong YanDandan LiangJunjie XiaoHongmei JinJie WuYangyang ZhangYi-Han Chen
- [39] Triplication of PCDH19 gene as a potential novel disease mechanism associated to epilepsy phenotype resembling loss-of-function mutationsEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 191 - 191Martinez, FranciscoOrellana, CarmenRosello Piera, MonicaMonfort Membrado, SandraOltra Soler, Juan SilvestreMartin-Grau, CarlaGabaldon Albero, Alba
- [40] Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunitsPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2013, 110 (11) : 4386 - 4391Miceli, FrancescoSoldovieri, Maria VirginiaAmbrosino, PaoloBarrese, VincenzoMigliore, MicheleCilio, Maria RobertaTaglialatela, Maurizio