학술논문

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(예 : 2010-2015)
'학술논문' 에서 검색결과 79건 | 목록 1~10
Electronic Resource
Tavernier , SJ , Athanasopoulos , V , Verloo , P , Behrens , G , Staal , J , Bogaert , DJ , Naesens , L , de Bruyne , M , Van Gassen , S , Parthoens , E , Ellyard , J , Cappello , J , Morris , LX , Van Gorp , H , Van Isterdael , G , Saeys , Y , Lamkanfi , M , Schelstraete , P , Dehoorne , J , Bordon , V , Van Coster , R , Lambrecht , B , Menten , B , Beyaert , R , Vinuesa , CG , Heissmeyer , V , Dullaers , M & Haerynck , F 2019 , ' A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation ' , Nature Communications , vol. 10 , 4779 .
Electronic Resource
Repp, BMastantuono, EAlston, CSchiff, MHaack, TRötig, AArdissone, ALombès, ACatarino, CDiodato, DSchottmann, GPoulton, JBurlina, AJonckheere, AMunnich, ARolinski, BGhezzi, DRokicki, DWellesley, DMartinelli, DWenhong, DLamantea, EOstergaard, EPronicka, EPierre, GSmeets, HWittig, IScurr, IDe Coo, IMoroni, ISmet, JMayr, JDai, LDe Meirleir, LSchuelke, MZeviani, MMorscher, RMcfarland, RSeneca, SKlopstock, TMeitinger, TWieland, TStrom, THerberg, UAhting, USperl, WNassogne, MLing, HFang, FFreisinger, PVan Coster, RStrecker, VTaylor, RHäberle, JVockley, JProkisch, HWortmann, SRepp, Birgit M.Mastantuono, ElisaAlston, Charlotte L.Schiff, ManuelHaack, Tobias B.Rötig, AgnesArdissone, AnnaLombès, AnneCatarino, Claudia B.Diodato, DariaSchottmann, GudrunPoulton, JoannaBurlina, AlbertoJonckheere, AnMunnich, ArnoldRolinski, BorisGhezzi, DanieleRokicki, DariuszWellesley, DianaMartinelli, DiegoWenhong, DingLamantea, EleonoraOstergaard, ElsebetPronicka, EwaPierre, GermaineSmeets, Hubert J. M.Wittig, IlkaScurr, IngridDe Coo, Irenaeus F. M.Moroni, IsabellaSmet, JoélMayr, Johannes A.Dai, LifangDe Meirleir, LindaSchuelke, MarkusZeviani, MassimoMorscher, Raphael J.McFarland, RobertSeneca, SaraKlopstock, ThomasMeitinger, ThomasWieland, ThomasStrom, Tim M.Herberg, UlrikeAhting, UweSperl, WolfgangNassogne, Marie-CecileLing, HanFang, FangFreisinger, PeterVan Coster, RudyStrecker, ValentinaTaylor, Robert W.Häberle, JohannesVockley, JerryProkisch, HolgerWortmann, Saskia
Electronic Resource
Repp , BM , Mastantuono , E , Alston , CL , Schiff , M , Haack , TB , Rotig , A , Ardissone , A , Lombes , A , Catarino , CB , Diodato , D , Schottmann , G , Poulton , J , Burlina , A , Jonckheere , A , Munnich , A , Rolinski , B , Ghezzi , D , Rokicki , D , Wellesley , D , Martinelli , D , Ding , WH , Lamantea , E , Ostergaard , E , Pronicka , E , Pierre , G , Smeets , HJM , Wittig , I , Scurr , I , Coo , IFM , Moroni , I , Smet , J , Mayr , JA , Dai , LF , de Meirleir , L , Schuelke , M , Zeviani , M , Morscher , RJ , McFarland , R , Seneca , S , Klopstock , T , Meitinger , T , Wieland , T , Strom , TM , Herberg , U , Ahting , U , Sperl , W , Nassogne , MC , Ling , H , Fang , F , Freisinger , P , Van Coster , R , Strecker , V , Taylor , RW , Haberle , J , Vockley , J , Prokisch , H & Wortmann , S 2018 , ' Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? ' , Orphanet Journal of Rare Diseases , vol. 13 , 120 .
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[AR] van Coster, R
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