학술논문

발행년
-
(예 : 2010-2015)
'학술논문' 에서 검색결과 450건 | 목록 190~200
Academic Journal
Reddy, H. M., K. Cho, M. Lek, E. Estrella, E. Valkanas, M. D. Jones, S. Mitsuhashi, et al. 2016. “The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.” Journal of human genetics 62 (2): 243-252. doi:10.1038/jhg.2016.116. http://dx.doi.org/10.1038/jhg.2016.116.
Academic Journal
Huang, JieHowie, BryanMcCarthy, ShaneMemari, YasinWalter, KlaudiaMin, Josine L.Danecek, PetrMalerba, GiovanniTrabetti, ElisabettaZheng, Hou-FengAl Turki, SaeedAmuzu, AntoinetteAnderson, Carl A.Anney, RichardAntony, DinuArtigas, María SolerAyub, MuhammadBala, SenduranBarrett, Jeffrey C.Barroso, InêsBeales, PhilBenn, MarianneBentham, JamieBhattacharya, ShoumoBirney, EwanBlackwood, DouglasBobrow, MartinBochukova, ElenaBolton, Patrick F.Bounds, RebeccaBoustred, ChrisBreen, GeromeCalissano, MattiaCarss, KerenPablo Casas, JuanChambers, John C.Charlton, RuthChatterjee, KrishnaChen, LuCiampi, AntonioCirak, SebahattinClapham, PeterClement, GailCoates, GuyCocca, MassimilianoCollier, David A.Cosgrove, CatherineCox, TonyCraddock, NickCrooks, LucyCurran, SarahCurtis, DavidDaly, AllanDay, Ian N. M.Day-Williams, AaronDedoussis, GeorgeDown, ThomasDu, Yuanpingvan Duijn, Cornelia M.Dunham, IanEdkins, SarahEkong, RosemaryEllis, PeterEvans, David M.Farooqi, I. SadafFitzpatrick, David R.Flicek, PaulFloyd, JamesFoley, A. ReghanFranklin, Christopher S.Futema, MartaGallagher, LouiseGasparini, PaoloGaunt, Tom R.Geihs, MatthiasGeschwind, DanielGreenwood, CeliaGriffin, HeatherGrozeva, DetelinaGuo, XiaosenGuo, XueqinGurling, HughHart, DeborahHendricks, Audrey E.Holmans, PeterHuang, LirenHubbard, TimHumphries, Steve E.Hurles, Matthew E.Hysi, PirroIotchkova, ValentinaIsaacs, AaronJackson, David K.Jamshidi, YaldaJohnson, JonJoyce, ChrisKarczewski, Konrad J.Kaye, JaneKeane, ThomasKemp, John P.Kennedy, KarenKent, AlastairKeogh, JuliaKhawaja, FarrahKleber, Marcus E.van Kogelenberg, MargrietKolb-Kokocinski, AnjaKooner, Jaspal S.Lachance, GenevieveLangenberg, ClaudiaLangford, CordeliaLawson, DanielLee, Irenevan Leeuwen, Elisabeth M.Lek, MonkolLi, RuiLi, YingruiLiang, JieqinLin, HongLiu, RyanLönnqvist, JoukoLopes, Luis R.Lopes, MargaridaLuan, Jian'anMacArthur, Daniel G.Mangino, MassimoMarenne, GaëlleMärz, WinfriedMaslen, JohnMatchan, AngelaMathieson, IainMcGuffin, PeterMcIntosh, Andrew M.McKechanie, Andrew G.McQuillin, AndrewMetrustry, SarahMigone, NicolaMitchison, Hannah M.Moayyeri, AlirezaMorris, JamesMorris, RichardMuddyman, DawnMuntoni, FrancescoNordestgaard, Børge G.Northstone, KateO'Donovan, Michael C.O'Rahilly, StephenOnoufriadis, AlexandrosOualkacha, KarimOwen, Michael J.Palotie, AarnoPanoutsopoulou, KalliopeParker, VictoriaParr, Jeremy R.Paternoster, LaviniaPaunio, TiinaPayne, FelicityPayne, Stewart J.Perry, John R. B.Pietilainen, OlliPlagnol, VincentPollitt, Rebecca C.Povey, SueQuail, Michael A.Quaye, LydiaRaymond, LucyRehnström, KarolaRidout, Cheryl K.Ring, SusanRitchie, Graham R. S.Roberts, NicolaRobinson, Rachel L.Savage, David B.Scambler, PeterSchiffels, StephanSchmidts, MiriamSchoenmakers, NadiaScott, Richard H.Scott, Robert A.Semple, Robert K.Serra, EvaSharp, Sally I.Shaw, AdamShihab, Hashem A.Shin, So-YounSkuse, DavidSmall, Kerrin S.Smee, CarolSmith, George DaveySoutham, LorraineSpasic-Boskovic, OliveraSpector, Timothy D.St Clair, DavidSt Pourcain, BeateStalker, JimStevens, ElizabethSun, JianpingSurdulescu, GabrielaSuvisaari, JaanaSyrris, PetrosTachmazidou, IoannaTaylor, RohanTian, JingTobin, Martin D.Toniolo, DanielaTraglia, MichelaTybjaerg-Hansen, AnneValdes, Ana M.Vandersteen, Anthony M.Varbo, AnetteVijayarangakannan, ParthibanVisscher, Peter M.Wain, Louise V.Walters, James T. R.Wang, GuangbiaoWang, JunWang, YuWard, KirstenWheeler, EleanorWhincup, PeterWhyte, TamiekaWilliams, Hywel J.Williamson, Kathleen A.Wilson, CrispianWilson, Scott G.Wong, KimXu, ChangJiangYang, JianZaza, GianluigiZeggini, EleftheriaZhang, FengZhang, PingboZhang, WeihuaGambaro, GiovanniRichards, J. BrentDurbin, RichardTimpson, Nicholas J.Marchini, JonathanSoranzo, Nicole
Huang, J., B. Howie, S. McCarthy, Y. Memari, K. Walter, J. L. Min, P. Danecek, et al. 2015. “Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.” Nature Communications 6 (1): 8111. doi:10.1038/ncomms9111. http://dx.doi.org/10.1038/ncomms9111.
Academic Journal
Gonorazky, H., M. Liang, B. Cummings, M. Lek, J. Micallef, C. Hawkins, R. Basran, et al. 2015. “RNAseq analysis for the diagnosis of muscular dystrophy.” Annals of Clinical and Translational Neurology 3 (1): 55-60. doi:10.1002/acn3.267. http://dx.doi.org/10.1002/acn3.267.
Academic Journal
Yang, JialiangHuang, TaoPetralia, FrancescaLong, QuanZhang, BinArgmann, CarmenZhao, YongMobbs, Charles V.Schadt, Eric E.Zhu, JunTu, ZhidongArdlie, Kristin G.Deluca, David S.Segrè, Ayellet V.Sullivan, Timothy J.Young, Taylor R.Gelfand, Ellen T.Trowbridge, Casandra A.Maller, Julian B.Tukiainen, TaruLek, MonkolWard, Lucas D.Kheradpour, PouyaIriarte, BenjaminMeng, YanPalmer, Cameron D.Winckler, WendyHirschhorn, JoelKellis, ManolisMacArthur, Daniel G.Getz, GadShablin, Andrey A.Li, GenZhou, Yi-HuiNobel, Andrew B.Rusyn, IvanWright, Fred A.Lappalainen, TuuliFerreira, Pedro G.Ongen, HalitRivas, Manuel A.Battle, AlexisMostafavi, SaraMonlong, JeanSammeth, MichaelMele, MartaReverter, FerranGoldman, JakobKoller, DaphneGuigo, RodericMcCarthy, Mark I.Dermitzakis, Emmanouil T.Gamazon, Eric R.Konkashbaev, AnuarNicolae, Dan L.Cox, Nancy J.Flutre, TimothéeWen, XiaoquanStephens, MatthewPritchard, Jonathan K.Lin, LuanLiu, JunBrown, AmandaMestichelli, BernadetteTidwell, DeneeLo, EdmundSalvatore, MikeShad, SaboorThomas, Jeffrey A.Lonsdale, John T.Choi, ChristopherKarasik, EllenRamsey, KimberlyMoser, Michael T.Foster, Barbara A.Gillard, Bryan M.Syron, JohnFleming, JohnelleMagazine, HaroldHasz, RickWalters, Gary D.Bridge, Jason P.Miklos, MarkSullivan, SusanBarker, Laura K.Traino, HeatherMosavel, MagboebaSiminoff, Laura A.Valley, Dana R.Rohrer, Daniel C.Jewel, ScottBranton, PhilipSobin, Leslie H.Qi, LiqunHariharan, PushpaWu, ShenpeiTabor, DavidShive, CharlesSmith, Anna M.Buia, Stephen A.Undale, Anita H.Robinson, Karna L.Roche, NancyValentino, Kimberly M.Britton, AngelaBurges, RobinBradbury, DebraHambright, Kenneth W.Seleski, JohnKorzeniewski, Greg E.Erickson, KenyonMarcus, YvonneTejada, JorgeTaherian, MehranLu, ChunrongRobles, Barnaby E.Basile, MargaretMash, Deborah C.Volpi, SimonaStruewing, JeffTemple, Gary F.Boyer, JoyColantuoni, DeborahLittle, RogerKoester, SusanCarithers, NCI Latarsha J.Moore, Helen M.Guan, PingCompton, CarolynSawyer, Sherilyn J.Demchok, Joanne P.Vaught, Jimmie B.Rabiner, Chana A.Lockhart, Nicole C.
Yang, J., T. Huang, F. Petralia, Q. Long, B. Zhang, C. Argmann, Y. Zhao, et al. 2015. “Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases.” Scientific Reports 5 (1): 15145. doi:10.1038/srep15145. http://dx.doi.org/10.1038/srep15145.
Academic Journal
Taylor, Peter N.Porcu, EleonoraChew, ShelbyCampbell, Purdey J.Traglia, MichelaBrown, Suzanne J.Mullin, Benjamin H.Shihab, Hashem A.Min, JosineWalter, KlaudiaMemari, YasinHuang, JieBarnes, Michael R.Beilby, John P.Charoen, PimphenDanecek, PetrDudbridge, FrankForgetta, VincenzoGreenwood, CeliaGrundberg, ElinJohnson, Andrew D.Hui, JennieLim, Ee M.McCarthy, ShaneMuddyman, DawnPanicker, VijayPerry, John R.B.Bell, Jordana T.Yuan, WeiRelton, CarolineGaunt, TomSchlessinger, DavidAbecasis, GoncaloCucca, FrancescoSurdulescu, Gabriela L.Woltersdorf, WolframZeggini, EleftheriaZheng, Hou-FengToniolo, DanielaDayan, Colin M.Naitza, SilviaWalsh, John P.Spector, TimDavey Smith, GeorgeDurbin, RichardBrent Richards, J.Sanna, SerenaSoranzo, NicoleTimpson, Nicholas J.Wilson, Scott G.Turki, Saeed AlAnderson, CarlAnney, RichardAntony, DinuArtigas, Maria SolerAyub, MuhammadBalasubramaniam, SenduranBarrett, Jeffrey C.Barroso, InêsBeales, PhilBentham, JamieBhattacharya, ShoumoBirney, EwanBlackwood, DouglasBobrow, MartinBochukova, ElenaBolton, PatrickBounds, RebeccaBoustred, ChrisBreen, GeromeCalissano, MattiaCarss, KerenChatterjee, KrishnaChen, LuCiampi, AntonioCirak, SebhattinClapham, PeterClement, GailCoates, GuyCollier, DavidCosgrove, CatherineCox, TonyCraddock, NickCrooks, LucyCurran, SarahCurtis, DavidDaly, AllanDay-Williams, AaronDay, Ian N.M.Down, ThomasDu, YuanpingDunham, IanEdkins, SarahEllis, PeterEvans, DavidFaroogi, SadafFatemifar, GhazalehFitzpatrick, David R.Flicek, PaulFlyod, JamesFoley, A. ReghanFranklin, Christopher S.Futema, MartaGallagher, LouiseGeihs, MatthiasGeschwind, DanielGriffin, HeatherGrozeva, DetelinaGuo, XueqinGuo, XiaosenGurling, HughHart, DeborahHendricks, AudreyHolmans, PeterHowie, BryanHuang, LirenHubbard, TimHumphries, Steve E.Hurles, Matthew E.Hysi, PirroJackson, David K.Jamshidi, YaldaJing, TianJoyce, ChrisKaye, JaneKeane, ThomasKeogh, JuliaKemp, JohnKennedy, KarenKolb-Kokocinski, AnjaLachance, GenevieveLangford, CordeliaLawson, DanielLee, IreneLek, MonkolLiang, JieqinLin, HongLi, RuiLi, YingruiLiu, RyanLönnqvist, JoukoLopes, MargaridaLotchkova, ValentinaMacArthur, DanielMarchini, JonathanMaslen, JohnMassimo, ManginoMathieson, IainMarenne, GaëlleMcGuffin, PeterMcIntosh, AndrewMcKechanie, Andrew G.McQuillin, AndrewMetrustry, SarahMitchison, HannahMoayyeri, AlirezaMorris, JamesMuntoni, FrancescoNorthstone, KateO'Donnovan, MichaelOnoufriadis, AlexandrosO'Rahilly, StephenOualkacha, KarimOwen, Michael J.Palotie, AarnoPanoutsopoulou, KalliopeParker, VictoriaParr, Jeremy R.Paternoster, LaviniaPaunio, TiinaPayne, FelicityPietilainen, OlliPlagnol, VincentQuaye, LydiaQuai, Michael A.Raymond, LucyRehnström, KarolaRichards, BrentRing, SusanRitchie, Graham R.S.Roberts, NicolaSavage, David B.Scambler, PeterSchiffels, StephenSchmidts, MiriamSchoenmakers, NadiaSemple, Robert K.Serra, EvaSharp, Sally I.Shin, So-YounSkuse, DavidSmall, KerrinSoutham, LorraineSpasic-Boskovic, OliveraClair, David StStalker, JimStevens, ElizabethPourcian, Beate StSun, JianpingSuvisaari, JaanaTachmazidou, IonnaTobin, Martin D.Valdes, AnaKogelenberg, Margriet VanVijayarangakannan, ParthibanVisscher, Peter M.Wain, Louise V.Walters, James T.R.Wang, GuangbiaoWang, JunWang, YuWard, KirstenWheeler, ElanorWhyte, TamiekaWilliams, HywelWilliamson, Kathleen A.Wilson, CrispianWong, KimXu, ChangJiangYang, JianZhang, FendZhang, Pingbo
Taylor, P. N., E. Porcu, S. Chew, P. J. Campbell, M. Traglia, S. J. Brown, B. H. Mullin, et al. 2015. “Whole-genome sequence-based analysis of thyroid function.” Nature Communications 6 (1): 5681. doi:10.1038/ncomms6681. http://dx.doi.org/10.1038/ncomms6681.
Academic Journal
Dickinson, Mary E.Flenniken, Ann M.Ji, XiaoTeboul, LydiaWong, Michael D.White, Jacqueline K.Meehan, Terrence F.Weninger, Wolfgang J.Westerberg, HenrikAdissu, HibretBaker, Candice N.Bower, LynetteBrown, James M.Caddle, L. BriannaChiani, FrancescoClary, DaveCleak, JamesDaly, Mark J.Denegre, James M.Doe, BrendanDolan, Mary E.Fuchs, Sarah M. Edie HelmutGailus-Durner, ValerieGalli, AntonellaGambadoro, AlessiaGallegos, JuanGuo, ShiyingHorner, Neil R.Hsu, Chih-WeiJohnson, Sara J.Kalaga, SowmyaKeith, Lance C.Lanoue, LouiseLawson, Thomas N.Lek, MonkolMark, ManuelMarschall, SusanMason, JeremyMcElwee, Melissa L.Nutter, Susan Newbigging Lauryl M. J.Peterson, Kevin A.Ramirez-Solis, RamiroRowland, Douglas J.Ryder, EdwardSamocha, Kaitlin E.Seavitt, John R.Selloum, MohammedSzoke-Kovacs, ZsomborTamura, MasaruTrainor, Amanda G.Tudose, IlincaWakana, ShigeharuWarren, JonathanWendling, OliviaWest, David B.Wong, LeeyeanYoshiki, AtsushiWurst, WolfgangMacArthur, Daniel G.Tocchini-Valentini, Glauco P.Gao, XiangFlicek, PaulBradley, AllanSkarnes, William C.Justice, Monica J.Parkinson, Helen E.Moore, MarkWells, SaraRaun, Robert E. B.Svenson, Karen L.de Angelis, Martin HrabeHerault, YannMohun, TimMallon, Ann-MarieHenkelman, R. MarkBrown, Steve D. M.Adams, David J.Lloyd, K. C. KentMcKerlie, ColinBeaudet, Arthur L.Murray, Maja Bucan Stephen A.Int Mouse Phenotyping Consortium
NATURE; NOV 16 2017, 551 7680, 1p.
Academic Journal
Timpson, Nicholas J.Walter, KlaudiaMin, Josine L.Tachmazidou, IoannaMalerba, GiovanniShin, So-YounChen, LuFutema, MartaSoutham, LorraineIotchkova, ValentinaCocca, MassimilianoHuang, JieMemari, YasinMcCarthy, ShaneDanecek, PetrMuddyman, DawnMangino, MassimoMenni, CristinaPerry, John R. B.Ring, Susan M.Gaye, AmadouDedoussis, GeorgeFarmaki, Aliki-EleniBurton, PaulTalmud, Philippa J.Gambaro, GiovanniSpector, Tim D.Smith, George DaveyDurbin, RichardRichards, J BrentHumphries, Steve E.Zeggini, EleftheriaSoranzo, NicoleAl Turki, SaeedAnderson, CarlAnney, RichardAntony, DinuSoler Artigas, MariaAyub, MuhammadBalasubramaniam, SenduranBarrett, Jeffrey C.Barroso, InêsBeales, PhilBentham, JamieBhattacharya, ShoumoBirney, EwanBlackwood, DouglasBobrow, MartinBochukova, ElenaBolton, PatrickBounds, RebeccaBoustred, ChrisBreen, GeromeCalissano, MattiaCarss, KerenChatterjee, KrishnaCiampi, AntonioCirak, SebhattinClapham, PeterClement, GailCoates, GuyCollier, DavidCosgrove, CatherineCox, TonyCraddock, NickCrooks, LucyCurran, SarahCurtis, DavidDaly, AllanDavey Smith, GeorgeDay-Williams, AaronDay, Ian N. M.Down, ThomasDu, YuanpingDunham, IanEdkins, SarahEllis, PeterEvans, DavidFaroogi, SadafFatemifar, GhazalehFitzpatrick, David R.Flicek, PaulFlyod, JamesFoley, A ReghanFranklin, Christopher SGallagher, LouiseGaunt, TomGeihs, MatthiasGeschwind, DanielGreenwood, CeliaGriffin, HeatherGrozeva, DetelinaGuo, XueqinGuo, XiaosenGurling, HughHart, DeborahHendricks, AudreyHolmans, PeterHowie, BryanHuang, LirenHubbard, TimHurles, Matthew E.Hysi, PirroJackson, David K.Jamshidi, YaldaJing, TianJoyce, ChrisKaye, JaneKeane, ThomasKeogh, JuliaKemp, JohnKennedy, KarenKolb-Kokocinski, AnjaLachance, GenevieveLangford, CordeliaLawson, DanielLee, IreneLek, MonkolLiang, JieqinLin, HongLi, RuiLi, YingruiLiu, RyanLönnqvist, JoukoLopes, MargaridaLotchkova, ValentinaMacArthur, DanielMarchini, JonathanMaslen, JohnMassimo, ManginoMathieson, IainMarenne, GaëlleMcGuffin, PeterMcIntosh, AndrewMcKechanie, Andrew G.McQuillin, AndrewMetrustry, SarahMin, JosineMitchison, HannahMoayyeri, AlirezaMorris, JamesMuntoni, FrancescoNorthstone, KateO'Donnovan, MichaelOnoufriadis, AlexandrosO'Rahilly, StephenOualkacha, KarimOwen, Michael J.Palotie, AarnoPanoutsopoulou, KalliopeParker, VictoriaParr, Jeremy R.Paternoster, LaviniaPaunio, TiinaPayne, FelicityPerry, JohnPietilainen, OlliPlagnol, VincentQuaye, LydiaQuail, Michael A.Raymond, LucyRehnström, KarolaRichards, BrentRing, SusanRitchie, Graham R. S.Roberts, NicolaSavage, David B.Scambler, PeterSchiffels, StephenSchmidts, MiriamSchoenmakers, NadiaSemple, Robert K.Serra, EvaSharp, Sally I.Shihab, HasheemSkuse, DavidSmall, KerrinSpasic-Boskovic, OliveraSpector, TimSt Clair, DavidStalker, JimStevens, ElizabethSt Pourcian, BeateSun, JianpingSurdulescu, GabrielaSuvisaari, JaanaTachmazidou, IonnaTimpson, NicholasTobin, Martin D.Valdes, AnaVan Kogelenberg, MargrietVijayarangakannan, ParthibanVisscher, Peter M.Wain, Louise V.Walters, James T. R.Wang, GuangbiaoWang, JunWang, YuWard, KirstenWheeler, ElanorWhyte, TamiekaWilliams, HywelWilliamson, Kathleen A.Wilson, CrispianWilson, Scott G.Wong, KimXu, ChangJiangYang, JianZhang, FendZhang, PingboZheng, Hou-Feng
Timpson, N. J., K. Walter, J. L. Min, I. Tachmazidou, G. Malerba, S. Shin, L. Chen, et al. 2014. “A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.” Nature Communications 5 (1): 4871. doi:10.1038/ncomms5871. http://dx.doi.org/10.1038/ncomms5871.
검색 결과 제한하기
제한된 항목
[AR] Lek, Monkol
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어