학술논문

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(예 : 2010-2015)
'학술논문' 에서 검색결과 115건 | 목록 1~10
Academic Journal
Crow, YJChase, DSSchmidt, JLSzynkiewicz, MForte, GMAGornall, HLOojageer, AAnderson, BPizzino, AHelman, GAbdel-Hamid, MSAbdel-Salam, GMAckroyd, SAeby, AAgosta, GAlbin, CAllon-Shalev, SArellano, MAriaudo, GAswani, VBabul-Hirji, RBaildam, EMBahi-Buisson, NBailey, KMBarnerias, CBarth, MBattini, RBeresford, MWBernard, GBianchi, Mde Villemeur, TBBlair, EMBloom, MBurlina, ABCarpanelli, MLCarvalho, DRCastro-Gago, MCavallini, ACereda, CChandler, KEChitayat, DACollins, AECorcoles, CSCordeiro, NJVCrichiutti, GDabydeen, LDale, RCD'Arrigo, SDe Goede, CGELDe Laet, CDe Waele, LMHDenzler, IDesguerre, IDevriendt, KDi Rocco, MFahey, MCFazzi, EFerrie, CDFigueiredo, AGener, BGoizet, CGowrinathan, NRGowrishankar, KHanrahan, DIsidor, BKara, LKhan, NKing, MDKirk, EPKumar, RLagae, LLandrieu, PLauffer, HLaugel, VLa Piana, RLim, MJLin, JPSMLinnankivi, TMackay, MTMarom, DRLourenco, CMMcKee, SAMoroni, IMorton, JEVMoutard, MLMurray, KNabbout, RNampoothiri, SNunez-Enamorado, NOades, PJOlivieri, IOstergaard, JRPerez-Duenas, BPrendiville, JSRamesh, VRasmussen, MRegal, LRicci, FRio, MRodriguez, DRoubertie, ASalvatici, ESegers, KASinha, GPSoler, DSpiegel, RStodberg, TIStraussberg, RSwoboda, KJSuri, MTacke, UTan, TYNaude, JTTeik, KWThomas, MMTill, MTonduti, DValente, EMVan Coster, RNvan der Knaap, MSVassallo, GVijzelaar, RVogt, JWallace, GBWassmer, EWebb, HJWhitehouse, WPWhitney, RNZaki, MSZuberi, SMLivingston, JHRozenberg, FLebon, PVanderver, AOrcesi, SRice, GI
American journal of medical genetics. Part A. 167(167A):296-312
Electronic Resource
van Geest , F , Meima , M , Stuurman , K , Wolf , NI , van der Knaap , MS , Lorea , CF , Poswar , FO , Vairo , F , Brunetti-Pierri , N , Cappuccio , G , Bakhtiani , P , de Munnik , SA , Peeters , R , Visser , E & Groeneweg , S 2021 , ' Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series ' , The Journal of clinical endocrinology and metabolism , vol. 106 , no. 2 , pp. 539-553 .
Electronic Resource
Beerepoot , S , van Dooren , SJM , Salomons , GS , Boelens , JJ , Jacobs , E , van der Knaap , MS , van Kuilenburg , ABP & Wolf , NI 2020 , ' Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients ' , Neurogenetics , vol. 21 , no. 4 , pp. 289-299 .
Electronic Resource
Theunissen , T E J , Szklarczyk , R , Gerards , M , Hellebrekers , DMEI , den Hartog , NM , Vanoevelen , J , Kamps , R , de Koning , B , Rutledge , S L , Schmitt-Mechelke , T , van Berkel , CGM , van der Knaap , MS , Coo , IFM & Smeets , HJM 2016 , ' Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects ' , Frontiers in Neurology , vol. 7 , 203 .
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[AR] Van der Knaap, MS
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