학술논문

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'학술논문' 에서 검색결과 103건 | 목록 1~10
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Radio, FCPang, KFCiolfi, ALevy, MAHernandez-Garcia, APedace, LPantaleoni, FLiu, ZDde Boer, EJackson, ABruselles, AMcConkey, HStellacci, ELo Cicero, SMotta, MCarrozzo, RDentici, MLMcWalter, KDesai, MMonaghan, KGTelegrafi, APhilippe, CVitobello, AAu, MGrand, KSanchez-Lara, PABaez, JLindstrom, KKulch, PSebastian, JMadan-Khetarpal, SRoadhouse, CMacKenzie, JJMonteleone, BSaunders, CJCuevas, JKJCross, LZhou, DHHartley, TSawyer, SLMonteiro, FPSecches, TVKok, FSchultz-Rogers, LEMacke, ELMorava, EKlee, EWKemppainen, JIascone, MSelicorni, ATenconi, RAmor, DJPais, LGallacher, LTurnpenny, PDStals, KEllard, SCabet, SLesca, GPascal, JSteindl, KRavid, SWeiss, KCastle, AMRCarter, MTKalsner, Lde Vries, BBAvan Bon, BWWevers, MRPfundt, RStegmann, APAKerr, BKingston, HMChandler, KESheehan, WElias, AFShinde, DNTowne, MCRobin, NHGoodloe, DVanderver, ASherbini, OBluske, KHagelstrom, RTZanus, CFaletra, FMusante, LKurtz-Nelson, ECEarl, RKAnderlid, BMMorin, Gvan Slegtenhorst, MDiderich, KEMBrooks, ASGribnau, JBoers, RGFinestra, TRCarter, LBRauch, AGasparini, PBoycott, KMBarakat, TSGraham, JMFaivre, LBanka, SWang, TYEichler, EEPriolo, MDallapiccola, BVissers, LELMSadikovic, BScott, DAHolder, JLTartaglia, M
American journal of human genetics. 108(3):502-516
Electronic Resource
van der Linde , IHM , Hiemstra , YL , Bokenkamp , R , Mil , A , Breuning , MH , Ruivenkamp , C , ten Broeke , SW , Veldkamp , RF , Waning , J , van Slegtenhorst , MA , Spaendonck-Zwarts , KY , Deprez , RHL , Herkert , JC , Boven , LA , van der Zwaag , PA , Jongbloed , JDH , Bootsma , M & Barge-Schaapveld , D 2017 , ' A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects ' , Netherlands Heart Journal , vol. 25 , no. 12 , pp. 675-681 .
Electronic Resource
Herkert , JC , Verhagen , J , Yotti , R , Haghighi , A , Phelan , DG , James , PA , Brown , NJ , Stutterd , C , Macciocca , I , Leong , K , Bulthuis , MLC , Bever , Y , van Slegtenhorst , M , Boven , LG , Roberts , AE , Agarwal , R , Seidman , J , Lakdawala , NK , Fernandez-Aviles , F , Burke , MA , Pierpont , ME , Braunlin , E , Aaglayan , AO , Barge-Schaapveld , D , Birnie , E , Van Osch - Gevers , L , van Langen , IM , Jongbloed , JD , Lockhart , PJ , Amor , DJ , Seidman , CE & De Graaf - van de Laar , I 2020 , ' Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants ' , American Heart Journal , vol. 225 , pp. 108-119 .
Electronic Resource
Harper , CB , Verheijen - Mancini , G , van Slegtenhorst , M & Cousin , MA 2017 , ' Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder ' , Neurobiology of Disease , vol. 108 , pp. 298-306 .
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[Author] van Slegtenhorst MA
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