학술논문


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'학술논문' 에서 검색결과 97건 | 목록 1~20
Academic Journal
Ferdinandusse, SachaMcWalter, Kirstyte Brinke, HeleenIJlst, LodewijkMooijer, Petra M.Ruiter, Jos P.N.van Lint, Alida E.M.Pras-Raves, MiaWever, EricMillan, FranciscaGuillen Sacoto, Maria J.Begtrup, AmberTarnopolsky, MarkBrady, LaurenLadda, Roger L.Sell, Susan L.Nowak, Catherine B.Douglas, JessicaTian, CuixiaUlm, ElizabethPerlman, SethDrack, Arlene V.Chong, KarenMartin, NicoleBrault, JenniferBrokamp, EllyToro, CamiloGahl, William A.Macnamara, Ellen F.Wolfe, LynneAlejandro, Mercedes E.Azamian, Mahshid S.Bacino, Carlos A.Balasubramanyam, AshokBurrage, Lindsay C.Chao, Hsiao-TuanClark, Gary D.Craigen, William J.Dai, HongzhengDhar, Shweta U.Emrick, Lisa T.Goldman, Alica M.Hanchard, Neil A.Jamal, FarihaKaraviti, LefkotheaLalani, Seema R.Lee, Brendan H.Lewis, Richard A.Marom, RonitMoretti, Paolo M.Murdock, David R.Nicholas, Sarah K.Orengo, James P.Posey, Jennifer E.Potocki, LorraineRosenfeld, Jill A.Samson, Susan L.Scott, Daryl A.Tran, Alyssa A.Vogel, Tiphanie P.Wangler, Michael F.Yamamoto, ShinyaEng, Christine M.Liu, PengfeiWard, Patricia A.Behrens, EdwardDeardorff, MatthewFalk, MarniHassey, KellySullivan, KathleenVanderver, AdelineGoldstein, David B.Cope, HeidiMcConkie-Rosell, AllynSchoch, KellyShashi, VandanaSmith, Edward C.Spillmann, Rebecca C.Sullivan, Jennifer A.Tan, Queenie K.-G.Walley, Nicole M.Agrawal, Pankaj B.Beggs, Alan H.Berry, Gerard T.Briere, Lauren C.Cobban, Laurel A.Coggins, MatthewCooper, Cynthia M.Fieg, Elizabeth L.High, FrancesHolm, Ingrid A.Korrick, SusanKrier, Joel B.Lincoln, Sharyn A.Loscalzo, JosephMaas, Richard L.MacRae, Calum A.Pallais, J. CarlRao, Deepak A.Rodan, Lance H.Silverman, Edwin K.Stoler, Joan M.Sweetser, David A.Walker, MelissaWalsh, Chris A.Esteves, CeciliaKelley, Emily G.Kohane, Isaac S.LeBlanc, KimberlyMcCray, Alexa T.Nagy, AnnaDasari, SurendraLanpher, Brendan C.Lanza, Ian R.Morava, EvaOglesbee, DevinBademci, GuneyBarbouth, DeborahBivona, StephanieCarrasquillo, OlveenChang, Ta Chen PeterForghani, IrmanGrajewski, AlanaIsasi, RosarioLam, ByronLevitt, RoyLiu, Xue ZhongMcCauley, JacobSacco, RalphSaporta, MarioSchaechter, JudyTekin, MustafaTelischi, FredThorson, WillaZuchner, StephanColley, Heather A.Dayal, Jyoti G.Eckstein, David J.Findley, Laurie C.Krasnewich, Donna M.Mamounas, Laura A.Manolio, Teri A.Mulvihill, John J.LaMoure, Grace L.Goldrich, Madison P.Urv, Tiina K.Doss, Argenia L.Acosta, Maria T.Bonnenmann, CarstenD’Souza, PrecillaDraper, David D.Ferreira, CarlosGodfrey, Rena A.Groden, Catherine A.Maduro, Valerie V.Markello, Thomas C.Nath, AviNovacic, DonnaPusey, Barbara N.Wahl, Colleen E.Baker, EvaBurke, Elizabeth A.Adams, David R.Malicdan, May Christine V.Tifft, Cynthia J.Wolfe, Lynne A.Yang, JohnPower, BradleyGochuico, BernadetteHuryn, LaryssaLatham, LeaDavis, JoieMosbrook-Davis, DeborahRossignol, FrancisSolomon, BenMacDowall, JohnThurm, AudreyZein, WadihYousef, MuhammadAdam, MargaretAmendola, LauraBamshad, MichaelBeck, AnitaBennett, JimmyBerg-Rood, BeverlyBlue, ElizabethBoyd, BrennaByers, PeterChanprasert, SirisakCunningham, MichaelDipple, KatrinaDoherty, DanielEarl, DawnGlass, IanGolden-Grant, KatieHahn, SihounHing, AnneHisama, Fuki M.Horike-Pyne, MarthaJarvik, Gail P.Jarvik, JeffreyJayadev, SumanLam, ChristinaMaravilla, KennethMefford, HeatherMerritt, J. LawrenceMirzaa, GhaydaNickerson, DeborahRaskind, WendyRosenwasser, NatalieScott, C. RonSun, AngelaSybert, VirginiaWallace, StephanieWener, MarkWenger, TaraAshley, Euan A.Bejerano, GillBernstein, Jonathan A.Bonner, DevonCoakley, Terra R.Fernandez, LilianaFisher, Paul G.Fresard, LaureHom, JasonHuang, YongKohler, Jennefer N.Kravets, ElijahMajcherska, Marta M.Martin, Beth A.Marwaha, ShrutiMcCormack, Colleen E.Raja, Archana N.Reuter, Chloe M.Ruzhnikov, MauraSampson, Jacinda B.Smith, Kevin S.Sutton, ShirleyTabor, Holly K.Tucker, Brianna M.Wheeler, Matthew T.Zastrow, Diane B.Zhao, ChunliByrd, William E.Crouse, Andrew B.Might, MatthewNakano-Okuno, MarikoWhitlock, JordanBrown, GabrielleButte, Manish J.Dell’Angelica, Esteban C.Dorrani, NaghmehDouine, Emilie D.Fogel, Brent L.Gutierrez, IrmaHuang, AldenKrakow, DeborahLee, HaneLoo, Sandra K.Mak, Bryan C.Martin, Martin G.Martínez-Agosto, Julian A.McGee, ElisabethNelson, Stanley F.Nieves-Rodriguez, ShirleyPalmer, Christina G.S.Papp, Jeanette C.Parker, Neil H.Renteria, GeneceeSigner, Rebecca H.Sinsheimer, Janet S.Wan, JijunWang, Lee-kaiPerry, Katherine WesselingWoods, Jeremy D.Alvey, JustinAndrews, AshleyBale, JimBohnsack, JohnBotto, LorenzoCarey, JohnPace, LauraLongo, NicolaMarth, GaborMoretti, PaoloQuinlan, AaronVelinder, MattViskochil, DaveBayrak-Toydemir, PinarMao, RongWesterfield, MonteBican, AnnaDuncan, LauraHamid, RizwanKennedy, JenniferKozuira, MaryNewman, John H.Phillips, John A., IIIRives, LynetteRobertson, Amy K.Solem, EmilyCogan, Joy D.Cole, F. SessionsHayes, NicholeKiley, DanaSisco, KathyWambach, JenniferWegner, DanielBaldridge, DustinPak, StephenSchedl, TimothyShin, JimannSolnica-Krezel, LiliannaWaisfisz, QuintenZwijnenburg, Petra J.G.Ziegler, AlbanBarth, MagalieSmith, RosemarieEllingwood, SaraGaebler-Spira, DeborahBakhtiari, SomayehKruer, Michael C.van Kampen, Antoine H.C.Wanders, Ronald J.A.Waterham, Hans R.Cassiman, DavidVaz, Frédéric M.
In Genetics in Medicine April 2021 23(4):740-750
Academic Journal
Ferdinandusse, SachaMcWalter, Kirstyte Brinke, HeleenIJlst, LodewijkMooijer, Petra M.Ruiter, Jos P.N.van Lint, Alida E.M.Pras-Raves, MiaWever, EricMillan, FranciscaGuillen Sacoto, Maria J.Begtrup, AmberTarnopolsky, MarkBrady, LaurenLadda, Roger L.Sell, Susan L.Nowak, Catherine B.Douglas, JessicaTian, CuixiaUlm, ElizabethPerlman, SethDrack, Arlene V.Chong, KarenMartin, NicoleBrault, JenniferBrokamp, EllyToro, CamiloGahl, William A.Macnamara, Ellen F.Wolfe, Lynne A.Alejandro, Mercedes E.Azamian, Mahshid S.Bacino, Carlos A.Balasubramanyam, AshokBurrage, Lindsay C.Chao, Hsiao TuanClark, Gary D.Craigen, William J.Dai, HongzhengDhar, Shweta U.Emrick, Lisa T.Goldman, Alica M.Hanchard, Neil A.Jamal, FarihaKaraviti, LefkotheaLalani, Seema R.Lee, Brendan H.Lewis, Richard A.Marom, RonitMoretti, PaoloMurdock, David R.Nicholas, Sarah K.Orengo, James P.Posey, Jennifer E.Potocki, LorraineRosenfeld, Jill A.Samson, Susan L.Scott, Daryl A.Tran, Alyssa A.Vogel, Tiphanie P.Wangler, Michael F.Yamamoto, ShinyaEng, Christine M.Liu, PengfeiWard, Patricia A.Behrens, EdwardDeardorff, MatthewFalk, MarniHassey, KellySullivan, KathleenVanderver, AdelineGoldstein, David B.Cope, HeidiMcConkie-Rosell, AllynSchoch, KellyShashi, VandanaSmith, Edward C.Spillmann, Rebecca C.Sullivan, Jennifer A.Tan, Queenie K.G.Walley, Nicole M.Agrawal, Pankaj B.Beggs, Alan H.Berry, Gerard T.Briere, Lauren C.Cobban, Laurel A.Coggins, MatthewCooper, Cynthia M.Fieg, Elizabeth L.High, FrancesHolm, Ingrid A.Korrick, SusanKrier, Joel B.Lincoln, Sharyn A.Loscalzo, JosephMaas, Richard L.MacRae, Calum A.Pallais, J. CarlRao, Deepak A.Rodan, Lance H.Silverman, Edwin K.Stoler, Joan M.Sweetser, David A.Walker, MelissaWalsh, Chris A.Esteves, CeciliaKelley, Emily G.Kohane, Isaac S.LeBlanc, KimberlyMcCray, Alexa T.Nagy, AnnaDasari, SurendraLanpher, Brendan C.Lanza, Ian R.Morava, EvaOglesbee, DevinBademci, GuneyBarbouth, DeborahBivona, StephanieCarrasquillo, OlveenChang, Ta Chen PeterForghani, IrmanGrajewski, AlanaIsasi, RosarioLam, ByronLevitt, RoyLiu, Xue ZhongMcCauley, JacobSacco, RalphSaporta, MarioSchaechter, JudyTekin, MustafaTelischi, FredThorson, WillaZuchner, StephanColley, Heather A.Dayal, Jyoti G.Eckstein, David J.Findley, Laurie C.Krasnewich, Donna M.Mamounas, Laura A.Manolio, Teri A.Mulvihill, John J.LaMoure, Grace L.Goldrich, Madison P.Urv, Tiina K.Doss, Argenia L.Acosta, Maria T.Bonnenmann, CarstenD’Souza, PrecillaDraper, David D.Ferreira, CarlosGodfrey, Rena A.Groden, Catherine A.Maduro, Valerie V.Markello, Thomas C.Nath, AviNovacic, DonnaPusey, Barbara N.Wahl, Colleen E.Baker, EvaBurke, Elizabeth A.Adams, David R.Malicdan, May Christine V.Tifft, Cynthia J.Yang, JohnPower, BradleyGochuico, BernadetteHuryn, LaryssaLatham, LeaDavis, JoieMosbrook-Davis, DeborahRossignol, FrancisSolomon, BenMacDowall, JohnThurm, AudreyZein, WadihYousef, MuhammadAdam, MargaretAmendola, LauraBamshad, MichaelBeck, AnitaBennett, JimmyBerg-Rood, BeverlyBlue, ElizabethBoyd, BrennaByers, PeterChanprasert, SirisakCunningham, MichaelDipple, KatrinaDoherty, DanielEarl, DawnGlass, IanGolden-Grant, KatieHahn, SihounHing, AnneHisama, Fuki M.Horike-Pyne, MarthaJarvik, Gail P.Jarvik, JeffreyJayadev, SumanLam, ChristinaMaravilla, KennethMefford, HeatherMerritt, J. LawrenceMirzaa, GhaydaNickerson, DeborahRaskind, WendyRosenwasser, NatalieScott, C. RonSun, AngelaSybert, VirginiaWallace, StephanieWener, MarkWenger, TaraAshley, Euan A.Bejerano, GillBernstein, Jonathan A.Bonner, DevonCoakley, Terra R.Fernandez, LilianaFisher, Paul G.Fresard, LaureHom, JasonHuang, YongKohler, Jennefer N.Kravets, ElijahMajcherska, Marta M.Martin, Beth A.Marwaha, ShrutiMcCormack, Colleen E.Raja, Archana N.Reuter, Chloe M.Ruzhnikov, MauraSampson, Jacinda B.Smith, Kevin S.Sutton, ShirleyTabor, Holly K.Tucker, Brianna M.Wheeler, Matthew T.Zastrow, Diane B.Zhao, ChunliByrd, William E.Crouse, Andrew B.Might, MatthewNakano-Okuno, MarikoWhitlock, JordanBrown, GabrielleButte, Manish J.Dell’Angelica, Esteban C.Dorrani, NaghmehDouine, Emilie D.Fogel, Brent L.Gutierrez, IrmaHuang, AldenKrakow, DeborahLee, HaneLoo, Sandra K.Mak, Bryan C.Martin, Martin G.Martínez-Agosto, Julian A.McGee, ElisabethNelson, Stanley F.Nieves-Rodriguez, ShirleyPalmer, Christina G.S.Papp, Jeanette C.Parker, Neil H.Renteria, GeneceeSigner, Rebecca H.Sinsheimer, Janet S.Wan, JijunWang, Lee kaiPerry, Katherine WesselingWoods, Jeremy D.Alvey, JustinAndrews, AshleyBale, JimBohnsack, JohnBotto, LorenzoCarey, JohnPace, LauraLongo, NicolaMarth, GaborQuinlan, AaronVelinder, MattViskochil, DaveBayrak-Toydemir, PinarMao, RongWesterfield, MonteBican, AnnaDuncan, LauraHamid, RizwanKennedy, JenniferKozuira, MaryNewman, John H.Phillips, John A.Rives, LynetteRobertson, Amy K.Solem, EmilyCogan, Joy D.Cole, F. SessionsHayes, NicholeKiley, DanaSisco, KathyWambach, JenniferWegner, DanielBaldridge, DustinPak, StephenSchedl, TimothyShin, JimannSolnica-Krezel, LiliannaWaisfisz, QuintenZwijnenburg, Petra J.G.Ziegler, AlbanBarth, MagalieSmith, RosemarieEllingwood, SaraGaebler-Spira, DeborahBakhtiari, SomayehKruer, Michael C.van Kampen, Antoine H.C.Wanders, Ronald J.A.Waterham, Hans R.Cassiman, DavidVaz, Frédéric M.
Ferdinandusse, S, McWalter, K, te Brinke, H, IJlst, L, Mooijer, P M, Ruiter, J P N, van Lint, A E M, Pras-Raves, M, Wever, E, Millan, F, Guillen Sacoto, M J, Begtrup, A, Tarnopolsky, M, Brady, L, Ladda, R L, Sell, S L, Nowak, C B, Douglas, J, Tian, C, Ulm, E, Perlman, S, Drack, A V, Chong, K, Martin, N, Brault, J, Brokamp, E, Toro, C, Gahl, W A, Macnamara, E F, Wolfe, L A, Alejandro, M E, Azamian, M S, Bacino, C A, Balasubramanyam, A, Burrage, L C, Chao, H T, Clark, G D, Craigen, W J, Dai, H, Dhar, S U, Emrick, L T, Goldman, A M, Hanchard, N A, Jamal, F, Karaviti, L, Lalani, S R, Lee, B H, Lewis, R A, Marom, R, Moretti, P, Murdock, D R, Nicholas, S K, Orengo, J P, Posey, J E, Potocki, L, Rosenfeld, J A, Samson, S L, Scott, D A, Tran, A A, Vogel, T P, Wangler, M F, Yamamoto, S, Eng, C M, Liu, P, Ward, P A, Behrens, E, Deardorff, M, Falk, M, Hassey, K, Sullivan, K, Vanderver, A, Goldstein, D B, Cope, H, McConkie-Rosell, A, Schoch, K, Shashi, V, Smith, E C, Spillmann, R C, Sullivan, J A, Tan, Q K G, Walley, N M, Agrawal, P B, Beggs, A H, Berry, G T, Briere, L C, Cobban, L A, Coggins, M, Cooper, C M, Fieg, E L, High, F, Holm, I A, Korrick, S, Krier, J B, Lincoln, S A, Loscalzo, J, Maas, R L, MacRae, C A, Pallais, J C, Rao, D A, Rodan, L H, Silverman, E K, Stoler, J M, Sweetser, D A, Walker, M, Walsh, C A, Esteves, C, Kelley, E G, Kohane, I S, LeBlanc, K, McCray, A T, Nagy, A, Dasari, S, Lanpher, B C, Lanza, I R, Morava, E, Oglesbee, D, Bademci, G, Barbouth, D, Bivona, S, Carrasquillo, O, Chang, T C P, Forghani, I, Grajewski, A, Isasi, R, Lam, B, Levitt, R, Liu, X Z, McCauley, J, Sacco, R, Saporta, M, Schaechter, J, Tekin, M, Telischi, F, Thorson, W, Zuchner, S, Colley, H A, Dayal, J G, Eckstein, D J, Findley, L C, Krasnewich, D M, Mamounas, L A, Manolio, T A, Mulvihill, J J, LaMoure, G L, Goldrich, M P, Urv, T K, Doss, A L, Acosta, M T, Bonnenmann, C, D’Souza, P, Draper, D D, Ferreira, C, Godfrey, R A, Groden, C A, Macnamara, E F, Maduro, V V, Markello, T C, Nath, A, Novacic, D, Pusey, B N, Toro, C, Wahl, C E, Baker, E, Burke, E A, Adams, D R, Gahl, W A, Malicdan, M C V, Tifft, C J, Wolfe, L A, Yang, J, Power, B, Gochuico, B, Huryn, L, Latham, L, Davis, J, Mosbrook-Davis, D, Rossignol, F, Solomon, B, MacDowall, J, Thurm, A, Zein, W, Yousef, M, Adam, M, Amendola, L, Bamshad, M, Beck, A, Bennett, J, Berg-Rood, B, Blue, E, Boyd, B, Byers, P, Chanprasert, S, Cunningham, M, Dipple, K, Doherty, D, Earl, D, Glass, I, Golden-Grant, K, Hahn, S, Hing, A, Hisama, F M, Horike-Pyne, M, Jarvik, G P, Jarvik, J, Jayadev, S, Lam, C, Maravilla, K, Mefford, H, Merritt, J L, Mirzaa, G, Nickerson, D, Raskind, W, Rosenwasser, N, Scott, C R, Sun, A, Sybert, V, Wallace, S, Wener, M, Wenger, T, Ashley, E A, Bejerano, G, Bernstein, J A, Bonner, D, Coakley, T R, Fernandez, L, Fisher, P G, Fresard, L, Hom, J, Huang, Y, Kohler, J N, Kravets, E, Majcherska, M M, Martin, B A, Marwaha, S, McCormack, C E, Raja, A N, Reuter, C M, Ruzhnikov, M, Sampson, J B, Smith, K S, Sutton, S, Tabor, H K, Tucker, B M, Wheeler, M T, Zastrow, D B, Zhao, C, Byrd, W E, Crouse, A B, Might, M, Nakano-Okuno, M, Whitlock, J, Brown, G, Butte, M J, Dell’Angelica, E C, Dorrani, N, Douine, E D, Fogel, B L, Gutierrez, I, Huang, A, Krakow, D, Lee, H, Loo, S K, Mak, B C, Martin, M G, Martínez-Agosto, J A, McGee, E, Nelson, S F, Nieves-Rodriguez, S, Palmer, C G S, Papp, J C, Parker, N H, Renteria, G, Signer, R H, Sinsheimer, J S, Wan, J, Wang, L K, Perry, K W, Woods, J D, Alvey, J, Andrews, A, Bale, J, Bohnsack, J, Botto, L, Carey, J, Pace, L, Longo, N, Marth, G, Moretti, P, Quinlan, A, Velinder, M, Viskochil, D, Bayrak-Toydemir, P, Mao, R, Westerfield, M, Bican, A, Brokamp, E, Duncan, L, Hamid, R, Kennedy, J, Kozuira, M, Newman, J H, Phillips, J A, Rives, L, Robertson, A K, Solem, E, Cogan, J D, Cole, F S, Hayes, N, Kiley, D, Sisco, K, Wambach, J, Wegner, D, Baldridge, D, Pak, S, Schedl, T, Shin, J, Solnica-Krezel, L, Waisfisz, Q, Zwijnenburg, P J G, Ziegler, A, Barth, M, Smith, R, Ellingwood, S, Gaebler-Spira, D, Bakhtiari, S, Kruer, M C, van Kampen, A H C, Wanders, R J A, Waterham, H R, Cassiman, D, Vaz, F M & Undiagnosed Diseases Network 2021, 'Correction to : An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)', Genetics in Medicine. https://doi.org/10.1038/s41436-021-01189-8
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[검색어] Te Brinke, Heleen
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